| Experimental Factor Ontology (EFO) Information | |
| Identifier | EFO_0000305 |
| Description | A carcinoma that arises from epithelial cells of the breast | Trait category |
Cancer
|
| Synonyms |
9 synonyms
|
| Mapped terms |
9 mapped terms
|
| Child trait(s) | 7 child traits |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000001 (PRS77_BC) |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
Breast cancer | breast carcinoma | 77 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000001/ScoringFiles/PGS000001.txt.gz |
| PGS000002 (PRS77_ERpos) |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
ER-positive breast cancer | estrogen-receptor positive breast cancer | 77 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000002/ScoringFiles/PGS000002.txt.gz |
| PGS000003 (PRS77_ERneg) |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
ER-negative breast cancer | estrogen-receptor negative breast cancer | 77 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000003/ScoringFiles/PGS000003.txt.gz |
| PGS000004 (PRS313_BC) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Breast cancer | breast carcinoma | 313 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.txt.gz | |
| PGS000005 (PRS313_ERpos) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
ER-positive breast cancer | estrogen-receptor positive breast cancer | 313 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000005/ScoringFiles/PGS000005.txt.gz | |
| PGS000006 (PRS313_ERneg) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
ER-negative breast cancer | estrogen-receptor negative breast cancer | 313 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000006/ScoringFiles/PGS000006.txt.gz | |
| PGS000007 (PRS3820_BC) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Breast cancer | breast carcinoma | 3,820 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000007/ScoringFiles/PGS000007.txt.gz | |
| PGS000008 (PRS3820_ERpos) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
ER-positive breast cancer | estrogen-receptor positive breast cancer | 3,820 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000008/ScoringFiles/PGS000008.txt.gz | |
| PGS000009 (PRS3820_ERneg) |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
ER-negative breast cancer | estrogen-receptor negative breast cancer | 3,820 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000009/ScoringFiles/PGS000009.txt.gz | |
| PGS000015 (GPS_BC) |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Breast cancer | breast carcinoma | 5,218 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000015/ScoringFiles/PGS000015.txt.gz | |
| PGS000028 (PRS) |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Breast cancer | breast carcinoma | 83 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000028/ScoringFiles/PGS000028.txt.gz |
| PGS000029 (PRS_AS) |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Breast cancer | breast carcinoma | 76 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000029/ScoringFiles/PGS000029.txt.gz |
| PGS000045 (BCPRS_Overall) |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Breast cancer | breast carcinoma | 88 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000045/ScoringFiles/PGS000045.txt.gz |
| PGS000046 (BCPRS_ER+) |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Estrogen receptor [ER]-positive breast cancer | estrogen-receptor positive breast cancer | 87 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000046/ScoringFiles/PGS000046.txt.gz |
| PGS000047 (BCPRS_ER-) |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Estrogen receptor [ER]-negative breast cancer | estrogen-receptor negative breast cancer | 53 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000047/ScoringFiles/PGS000047.txt.gz |
| PGS000050 (PRS44) |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Breast cancer | breast carcinoma | 44 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000050/ScoringFiles/PGS000050.txt.gz |
| PGS000051 (PRS67) |
PGP000036 | Zhang X et al. PLoS Med (2018) |
Breast cancer | breast carcinoma | 67 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000051/ScoringFiles/PGS000051.txt.gz |
| PGS000052 (sPRS161) |
PGP000037 | Lakeman IMM et al. J Med Genet (2019) |
Breast cancer | breast carcinoma | 161 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000052/ScoringFiles/PGS000052.txt.gz | |
| PGS000072 (CC_Breast) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Breast cancer | breast carcinoma | 187 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000072/ScoringFiles/PGS000072.txt.gz |
| PGS000153 (cGRS_Breast) |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Breast cancer | breast carcinoma | 66 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000153/ScoringFiles/PGS000153.txt.gz |
| PGS000212 (PRS330_LumA) |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Breast cancer intrinsic-like subtype (luminal A-like) | luminal A breast carcinoma | 330 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000212/ScoringFiles/PGS000212.txt.gz |
| PGS000213 (PRS330_LumBHER2neg) |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | HER2 negative breast carcinoma | 330 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000213/ScoringFiles/PGS000213.txt.gz |
| PGS000214 (PRS330_LumB) |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Breast cancer intrinsic-like subtype (luminal B-like) | luminal B breast carcinoma | 330 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000214/ScoringFiles/PGS000214.txt.gz |
| PGS000215 (PRS330_HER2) |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Breast cancer intrinsic-like subtype (HER2-enriched-like) | HER2 Positive Breast Carcinoma | 330 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000215/ScoringFiles/PGS000215.txt.gz |
| PGS000216 (PRS330_TN) |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Breast cancer intrinsic-like subtype (triple negative) | triple-negative breast cancer | 330 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000216/ScoringFiles/PGS000216.txt.gz |
| PGS000317 (PRS180) |
PGP000094 | Shieh Y et al. J Natl Cancer Inst (2020) |
Breast cancer | breast carcinoma | 180 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000317/ScoringFiles/PGS000317.txt.gz |
| PGS000332 (PRS_BC) |
PGP000100 | Mars N et al. Nat Med (2020) |
Breast cancer | breast carcinoma | 6,390,808 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000332/ScoringFiles/PGS000332.txt.gz | |
| PGS000335 (BC_PRSCS) |
PGP000102 | Mars N et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 1,079,089 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000335/ScoringFiles/PGS000335.txt.gz |
| PGS000344 (PRS287_BC) |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 287 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000344/ScoringFiles/PGS000344.txt.gz | |
| PGS000345 (PRS229_BC) |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 229 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000345/ScoringFiles/PGS000345.txt.gz | |
| PGS000346 (PRS287_ERneg) |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Estrogen receptor negative breast cancer | estrogen-receptor negative breast cancer | 287 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000346/ScoringFiles/PGS000346.txt.gz | |
| PGS000347 (PRS287_ERpos) |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Estrogen receptor positive breast cancer | estrogen-receptor positive breast cancer | 287 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000347/ScoringFiles/PGS000347.txt.gz | |
| PGS000472 (PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 22 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000472/ScoringFiles/PGS000472.txt.gz | |
| PGS000473 (PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,111,495 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000473/ScoringFiles/PGS000473.txt.gz | |
| PGS000474 (PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 68 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000474/ScoringFiles/PGS000474.txt.gz | |
| PGS000475 (PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 30,041 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000475/ScoringFiles/PGS000475.txt.gz | |
| PGS000476 (PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 32 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000476/ScoringFiles/PGS000476.txt.gz | |
| PGS000477 (PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,111,495 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000477/ScoringFiles/PGS000477.txt.gz | |
| PGS000478 (PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 120 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000478/ScoringFiles/PGS000478.txt.gz | |
| PGS000479 (PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 2,267 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000479/ScoringFiles/PGS000479.txt.gz | |
| PGS000480 (PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 20 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000480/ScoringFiles/PGS000480.txt.gz | |
| PGS000481 (PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,111,495 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000481/ScoringFiles/PGS000481.txt.gz | |
| PGS000482 (PRSWEB_PHECODE174.1_C50_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 42 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000482/ScoringFiles/PGS000482.txt.gz | |
| PGS000483 (PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 4,047 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000483/ScoringFiles/PGS000483.txt.gz | |
| PGS000484 (PRSWEB_PHECODE174.1_D05_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 25 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000484/ScoringFiles/PGS000484.txt.gz | |
| PGS000485 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 62 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000485/ScoringFiles/PGS000485.txt.gz | |
| PGS000486 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 86 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000486/ScoringFiles/PGS000486.txt.gz | |
| PGS000487 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 62 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000487/ScoringFiles/PGS000487.txt.gz | |
| PGS000488 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 79 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000488/ScoringFiles/PGS000488.txt.gz | |
| PGS000489 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 49 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000489/ScoringFiles/PGS000489.txt.gz | |
| PGS000490 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 49 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000490/ScoringFiles/PGS000490.txt.gz | |
| PGS000491 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,119,140 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000491/ScoringFiles/PGS000491.txt.gz | |
| PGS000492 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,120,410 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000492/ScoringFiles/PGS000492.txt.gz | |
| PGS000493 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 217 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000493/ScoringFiles/PGS000493.txt.gz | |
| PGS000494 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 49 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000494/ScoringFiles/PGS000494.txt.gz | |
| PGS000495 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 18,866 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000495/ScoringFiles/PGS000495.txt.gz | |
| PGS000496 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 41,744 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000496/ScoringFiles/PGS000496.txt.gz | |
| PGS000497 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 257 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000497/ScoringFiles/PGS000497.txt.gz | |
| PGS000498 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 257 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000498/ScoringFiles/PGS000498.txt.gz | |
| PGS000499 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,119,140 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000499/ScoringFiles/PGS000499.txt.gz | |
| PGS000500 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,120,410 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000500/ScoringFiles/PGS000500.txt.gz | |
| PGS000501 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,142 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000501/ScoringFiles/PGS000501.txt.gz | |
| PGS000502 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 747 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000502/ScoringFiles/PGS000502.txt.gz | |
| PGS000503 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 61,635 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000503/ScoringFiles/PGS000503.txt.gz | |
| PGS000504 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 148,560 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000504/ScoringFiles/PGS000504.txt.gz | |
| PGS000505 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 334 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000505/ScoringFiles/PGS000505.txt.gz | |
| PGS000506 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 334 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000506/ScoringFiles/PGS000506.txt.gz | |
| PGS000507 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,119,140 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000507/ScoringFiles/PGS000507.txt.gz | |
| PGS000508 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,120,410 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000508/ScoringFiles/PGS000508.txt.gz | |
| PGS000509 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 3,038 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000509/ScoringFiles/PGS000509.txt.gz | |
| PGS000510 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,682 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000510/ScoringFiles/PGS000510.txt.gz | |
| PGS000511 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 118,388 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000511/ScoringFiles/PGS000511.txt.gz | |
| PGS000512 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 286,144 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000512/ScoringFiles/PGS000512.txt.gz | |
| PGS000513 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 41 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000513/ScoringFiles/PGS000513.txt.gz | |
| PGS000514 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,119,237 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000514/ScoringFiles/PGS000514.txt.gz | |
| PGS000515 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 84 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000515/ScoringFiles/PGS000515.txt.gz | |
| PGS000516 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 6,977 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000516/ScoringFiles/PGS000516.txt.gz | |
| PGS000517 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 10 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000517/ScoringFiles/PGS000517.txt.gz | |
| PGS000518 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 10 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000518/ScoringFiles/PGS000518.txt.gz | |
| PGS000519 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,115,376 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000519/ScoringFiles/PGS000519.txt.gz | |
| PGS000520 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,116,435 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000520/ScoringFiles/PGS000520.txt.gz | |
| PGS000521 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 9 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000521/ScoringFiles/PGS000521.txt.gz | |
| PGS000522 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 14 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000522/ScoringFiles/PGS000522.txt.gz | |
| PGS000523 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 270 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000523/ScoringFiles/PGS000523.txt.gz | |
| PGS000524 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 2,708 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000524/ScoringFiles/PGS000524.txt.gz | |
| PGS000525 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 86 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000525/ScoringFiles/PGS000525.txt.gz | |
| PGS000526 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 86 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000526/ScoringFiles/PGS000526.txt.gz | |
| PGS000527 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,115,436 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000527/ScoringFiles/PGS000527.txt.gz | |
| PGS000528 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,116,495 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000528/ScoringFiles/PGS000528.txt.gz | |
| PGS000529 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 310 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000529/ScoringFiles/PGS000529.txt.gz | |
| PGS000530 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 174 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000530/ScoringFiles/PGS000530.txt.gz | |
| PGS000531 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 98,026 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000531/ScoringFiles/PGS000531.txt.gz | |
| PGS000532 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 12,277 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000532/ScoringFiles/PGS000532.txt.gz | |
| PGS000533 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 110 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000533/ScoringFiles/PGS000533.txt.gz | |
| PGS000534 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 110 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000534/ScoringFiles/PGS000534.txt.gz | |
| PGS000535 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,115,484 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000535/ScoringFiles/PGS000535.txt.gz | |
| PGS000536 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 1,116,546 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000536/ScoringFiles/PGS000536.txt.gz | |
| PGS000537 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 363 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000537/ScoringFiles/PGS000537.txt.gz | |
| PGS000538 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 85 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000538/ScoringFiles/PGS000538.txt.gz | |
| PGS000539 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 18,356 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000539/ScoringFiles/PGS000539.txt.gz | |
| PGS000540 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Breast cancer (female) | breast carcinoma | 7,118 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000540/ScoringFiles/PGS000540.txt.gz | |
| PGS000773 (PRS179_BC) |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Breast cancer | breast carcinoma | 179 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000773/ScoringFiles/PGS000773.txt.gz |
| PGS000774 (PRS179_ERpos) |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Estrogen receptor positive breast cancer | estrogen-receptor positive breast cancer | 179 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000774/ScoringFiles/PGS000774.txt.gz |
| PGS000775 (PRS179_ERneg) |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Estrogen receptor negative breast cancer | estrogen-receptor negative breast cancer | 179 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000775/ScoringFiles/PGS000775.txt.gz |
| PGS000783 (CC_Breast_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Breast cancer | breast carcinoma | 162 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000783/ScoringFiles/PGS000783.txt.gz |
| PGS000873 (SNP143) |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Breast cancer | breast carcinoma | 143 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000873/ScoringFiles/PGS000873.txt.gz |
| PGS001336 (GBE_cancer1002) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Breast cancer | breast carcinoma | 555 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001336/ScoringFiles/PGS001336.txt.gz |
| PGS001778 (PRS15_BC) |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Breast cancer | breast carcinoma | 15 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001778/ScoringFiles/PGS001778.txt.gz | |
| PGS001804 (portability-PLR_174.1) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Breast cancer (female) | breast carcinoma | 2,984 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001804/ScoringFiles/PGS001804.txt.gz |
| PGS002015 (portability-ldpred2_174.1) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Breast cancer (female) | breast carcinoma | 488,608 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002015/ScoringFiles/PGS002015.txt.gz |
| PGS002242 (ldpred_breastcancer) |
PGP000271 | Mars N et al. Cell Genom (2022) |
Breast cancer | breast carcinoma | 6,494,889 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002242/ScoringFiles/PGS002242.txt.gz | |
| PGS002294 (PRS111) |
PGP000324 | Yang Y et al. JAMA Netw Open (2022) |
Breast cancer | breast carcinoma | 111 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002294/ScoringFiles/PGS002294.txt.gz | |
| PGS003380 (best_BRCA) |
PGP000413 | Namba S et al. Cancer Res (2022) |
Breast cancer | breast carcinoma | 1,142,637 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003380/ScoringFiles/PGS003380.txt.gz |
| PGS003396 (PRS-11ASN) |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Breast cancer | breast carcinoma | 11 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003396/ScoringFiles/PGS003396.txt.gz |
| PGS003397 (PRS-42ASN) |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Breast cancer | breast carcinoma | 42 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003397/ScoringFiles/PGS003397.txt.gz |
| PGS003398 (PRS-136EUR) |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Breast cancer | breast carcinoma | 136 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003398/ScoringFiles/PGS003398.txt.gz |
| PGS003399 (PRS-209EUR) |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Breast cancer | breast carcinoma | 209 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003399/ScoringFiles/PGS003399.txt.gz |
| PGS003738 (PRS136_BC) |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Breast cancer | breast carcinoma | 136 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003738/ScoringFiles/PGS003738.txt.gz | |
| PGS003758 (BrCa_PRS_JPHC_JPGWAS) |
PGP000478 | Ohbe H et al. Breast Cancer Res Treat (2022) |
Breast cancer | breast carcinoma | 46,861 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003758/ScoringFiles/PGS003758.txt.gz | |
| PGS003759 (BrCa_PRS_JPHC_EURGWAS) |
PGP000478 | Ohbe H et al. Breast Cancer Res Treat (2022) |
Breast cancer | breast carcinoma | 17,252 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003759/ScoringFiles/PGS003759.txt.gz | |
| PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 1,137,459 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003983/ScoringFiles/PGS003983.txt.gz | |
| PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 13,086 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003999/ScoringFiles/PGS003999.txt.gz | |
| PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 1,041,298 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004025/ScoringFiles/PGS004025.txt.gz | |
| PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 1,041,298 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004040/ScoringFiles/PGS004040.txt.gz | |
| PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 869,407 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004053/ScoringFiles/PGS004053.txt.gz | |
| PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 869,407 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004069/ScoringFiles/PGS004069.txt.gz | |
| PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 1,103,877 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004083/ScoringFiles/PGS004083.txt.gz | |
| PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 209 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004107/ScoringFiles/PGS004107.txt.gz | |
| PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 982 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004123/ScoringFiles/PGS004123.txt.gz | |
| PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 950,524 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004137/ScoringFiles/PGS004137.txt.gz | |
| PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Breast cancer | breast carcinoma | 1,133,268 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004153/ScoringFiles/PGS004153.txt.gz | |
| PGS004166 (bc_1) |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Breast cancer | breast carcinoma | 3,920 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004166/ScoringFiles/PGS004166.txt.gz |
| PGS004167 (bc_2) |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Breast cancer | breast carcinoma | 717 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004167/ScoringFiles/PGS004167.txt.gz |
| PGS004168 (bc_3) |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Breast cancer | breast carcinoma | 4,618 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004168/ScoringFiles/PGS004168.txt.gz |
| PGS004169 (bc_4) |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Breast cancer | breast carcinoma | 1,361 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004169/ScoringFiles/PGS004169.txt.gz |
| PGS004170 (bc_5) |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Breast cancer | breast carcinoma | 2,278 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004170/ScoringFiles/PGS004170.txt.gz |
| PGS004242 (PRS306_breast) |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Breast cancer | breast carcinoma | 306 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004242/ScoringFiles/PGS004242.txt.gz |
| PGS004295 (GenoBoost_breast_cancer_0) |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 140 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004295/ScoringFiles/PGS004295.txt.gz |
| PGS004296 (GenoBoost_breast_cancer_1) |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 80 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004296/ScoringFiles/PGS004296.txt.gz |
| PGS004297 (GenoBoost_breast_cancer_2) |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 90 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004297/ScoringFiles/PGS004297.txt.gz |
| PGS004298 (GenoBoost_breast_cancer_3) |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 900 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004298/ScoringFiles/PGS004298.txt.gz |
| PGS004299 (GenoBoost_breast_cancer_4) |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 70 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004299/ScoringFiles/PGS004299.txt.gz |
| PGS004441 (disease.breast_cancer.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
Breast cancer | breast carcinoma | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004441/ScoringFiles/PGS004441.txt.gz |
| PGS004511 (meta.breast_cancer.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
Breast cancer | breast carcinoma | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004511/ScoringFiles/PGS004511.txt.gz |
| PGS004579 (BRCA_PRSCS) |
PGP000562 | Youssef O et al. Lab Invest (2024) |
Breast cancer | breast carcinoma | 1,088,163 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004579/ScoringFiles/PGS004579.txt.gz |
| PGS004611 (RORP_PRS) |
PGP000590 | Shieh Y et al. NPJ Precis Oncol (2023) |
Breast cancer | breast carcinoma | 76 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004611/ScoringFiles/PGS004611.txt.gz | |
| PGS004688 (breast_cancer) |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Breast cancer | breast carcinoma | 1,044,110 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004688/ScoringFiles/PGS004688.txt.gz | |
| PGS004737 (breast_cancer_PRSmix_eur) |
PGP000604 | Truong B et al. Cell Genom (2024) |
Breast cancer | breast carcinoma | 3,666,245 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004737/ScoringFiles/PGS004737.txt.gz |
| PGS004738 (breast_cancer_PRSmixPlus_eur) |
PGP000604 | Truong B et al. Cell Genom (2024) |
Breast cancer | breast carcinoma | 3,666,321 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004738/ScoringFiles/PGS004738.txt.gz |
| PGS004865 (PRS105_BC) |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Breast cancer | breast carcinoma | 105 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004865/ScoringFiles/PGS004865.txt.gz |
| PGS004866 (PRS105_ERposBC) |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
ER-positive breast cancer | estrogen-receptor positive breast cancer | 105 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004866/ScoringFiles/PGS004866.txt.gz |
| PGS004867 (PRS105_ERnegBC) |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
ER-negative breast cancer | estrogen-receptor negative breast cancer | 105 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004867/ScoringFiles/PGS004867.txt.gz |
| PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Breast cancer | breast carcinoma | 872,060 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004869/ScoringFiles/PGS004869.txt.gz | |
| PGS004890 (CC-GWAS_PRS) |
PGP000620 | Sun X et al. Cancer Res (2024) |
Triple negative breast cancer versus luminal breast cancer | triple-negative breast cancer | 25 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004890/ScoringFiles/PGS004890.txt.gz |
| PGS004891 (TNBC_PRS25) |
PGP000620 | Sun X et al. Cancer Res (2024) |
Triple negative breast cancer | triple-negative breast cancer | 25 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004891/ScoringFiles/PGS004891.txt.gz |
| PGS004892 (TNBC_PRS41) |
PGP000620 | Sun X et al. Cancer Res (2024) |
Triple negative breast cancer | triple-negative breast cancer | 41 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004892/ScoringFiles/PGS004892.txt.gz |
| PGS004893 (overall.hybrid.prs) |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Breast cancer | breast carcinoma | 56,943 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004893/ScoringFiles/PGS004893.txt.gz |
| PGS004894 (ERpos.prs) |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Estrogen receptor positive breast cancer | estrogen-receptor positive breast cancer | 29,309 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004894/ScoringFiles/PGS004894.txt.gz |
| PGS004895 (ERneg.prs) |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Estrogen receptor negative breast cancer | estrogen-receptor negative breast cancer | 28,405 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004895/ScoringFiles/PGS004895.txt.gz |
| PGS005104 (PRSAFR) |
PGP000694 | Jia G et al. Nat Genet (2024) |
Breast cancer | breast carcinoma | 89 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005104/ScoringFiles/PGS005104.txt.gz | |
| PGS005105 (PRSAFR_ER+) |
PGP000694 | Jia G et al. Nat Genet (2024) |
ER-positive breast cancer | estrogen-receptor positive breast cancer | 44 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005105/ScoringFiles/PGS005105.txt.gz | |
| PGS005106 (PRSAFR_ER−) |
PGP000694 | Jia G et al. Nat Genet (2024) |
ER-negative breast cancer | estrogen-receptor negative breast cancer | 24 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005106/ScoringFiles/PGS005106.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000005 | PGS000004 (PRS313_BC) |
PSS000007| European Ancestry| 190,040 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: Incident breast cancer cases | HR: 1.59 [1.54, 1.64] | — | — | study, genetic PCs 1-15 | Included only 306 of the 313 SNPs |
| PPM016283 | PGS003399 (PRS-209EUR) |
PSS010095| East Asian Ancestry| 41,031 individuals |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Reported Trait: Occurrence of breast cancer | HR: 1.54 [1.43, 1.66] | AUROC: 0.62 [0.6, 0.64] | — | principal component | — |
| PPM000004 | PGS000004 (PRS313_BC) |
PSS000004| European Ancestry| 29,751 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: Invasive breast cancer | OR: 1.61 [1.57, 1.65] | AUROC: 0.63 | — | study, genetic PCs 1-15 | — |
| PPM000006 | PGS000005 (PRS313_ERpos) |
PSS000005| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: ER-positive breast cancer | OR: 1.68 [1.63, 1.73] | AUROC: 0.641 | — | study, genetic PCs 1-15 | — |
| PPM000007 | PGS000006 (PRS313_ERneg) |
PSS000006| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: ER-negative breast cancer | OR: 1.45 [1.37, 1.53] | AUROC: 0.601 | — | study, genetic PCs 1-15 | — |
| PPM000008 | PGS000007 (PRS3820_BC) |
PSS000004| European Ancestry| 29,751 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: Invasive breast cancer | OR: 1.66 [1.61, 1.7] | AUROC: 0.636 | — | study, genetic PCs 1-15 | — |
| PPM000009 | PGS000008 (PRS3820_ERpos) |
PSS000005| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: ER-positive breast cancer | OR: 1.73 [1.68, 1.78] | AUROC: 0.647 | — | study, genetic PCs 1-15 | — |
| PPM000010 | PGS000009 (PRS3820_ERneg) |
PSS000006| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |
Reported Trait: ER-negative breast cancer | OR: 1.44 [1.36, 1.53] | AUROC: 0.6 | — | study, genetic PCs 1-15 | — |
| PPM000011 | PGS000001 (PRS77_BC) |
PSS000004| European Ancestry| 29,751 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |Ext. |
Reported Trait: Invasive breast cancer | OR: 1.46 [1.42, 1.49] | AUROC: 0.603 | — | study, genetic PCs 1-15 | — |
| PPM000012 | PGS000002 (PRS77_ERpos) |
PSS000005| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |Ext. |
Reported Trait: ER-positive breast cancer | OR: 1.52 [1.48, 1.56] | AUROC: 0.615 | — | study, genetic PCs 1-15 | — |
| PPM000013 | PGS000003 (PRS77_ERneg) |
PSS000006| European Ancestry| 11,428 individuals |
PGP000002 | Mavaddat N et al. Am J Hum Genet (2018) |Ext. |
Reported Trait: ER-negative breast cancer | OR: 1.35 [1.27, 1.43] | AUROC: 0.584 | — | study, genetic PCs 1-15 | — |
| PPM000056 | PGS000028 (PRS) |
PSS000040| Multi-ancestry (including European)| 981 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.65 [0.61, 0.68] | — | BCSC risk model | BCSC risk model includes mammographic breast density, age, ethnicity, first-degree relative with breast cancer, and history of breast biopsy |
| PPM000058 | PGS000029 (PRS_AS) |
PSS000038| East Asian Ancestry| 102 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.72 [0.62, 0.82] | — | BCSC risk model | BCSC risk model includes mammographic breast density, age, ethnicity, first-degree relative with breast cancer, and history of breast biopsy |
| PPM000055 | PGS000028 (PRS) |
PSS000040| Multi-ancestry (including European)| 981 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.6 [0.57, 0.64] | — | — | — |
| PPM000120 | PGS000045 (BCPRS_Overall) |
PSS000074| European Ancestry| 1,590 individuals |
PGP000034 | Lecarpentier J et al. J Clin Oncol (2017) |Ext. |
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations | OR: 1.36 [1.19, 1.56] | AUROC: 0.59 [0.55, 0.63] | — | 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 | PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS |
| PPM000121 | PGS000046 (BCPRS_ER+) |
PSS000074| European Ancestry| 1,590 individuals |
PGP000034 | Lecarpentier J et al. J Clin Oncol (2017) |Ext. |
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations | OR: 1.36 [1.19, 1.56] | AUROC: 0.59 [0.55, 0.63] | — | 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 | PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS |
| PPM000122 | PGS000047 (BCPRS_ER-) |
PSS000074| European Ancestry| 1,590 individuals |
PGP000034 | Lecarpentier J et al. J Clin Oncol (2017) |Ext. |
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations | OR: 1.19 [1.05, 1.35] | AUROC: 0.55 [0.51, 0.59] | — | 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 | PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS |
| PPM000126 | PGS000050 (PRS44) |
PSS000078| East Asian Ancestry| 23,567 individuals |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.606 | Odds Ratio (OR; per decile of PRS): 1.13 [1.12, 1.14] | NR | Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information). |
| PPM000127 | PGS000050 (PRS44) |
PSS000079| East Asian Ancestry| 5,152 individuals |
PGP000035 | Wen W et al. Breast Cancer Res (2016) |
Reported Trait: Breast cancer | — | C-index: 0.602 | C-index improvement (with PRS): 0.0386 [0.0259, 0.0513] | age at menarche, age at first live birth, waist-to-hip ratio, breast cancer family history, prior benign breast disease | Potentially overfit: samples were used to select the variants included in the PRS (see paper's Discussion section for more information). |
| PPM000128 | PGS000051 (PRS67) |
PSS000080| Multi-ancestry (including European)| 11,880 individuals |
PGP000036 | Zhang X et al. PLoS Med (2018) |
Reported Trait: Invasive breast cancer | — | AUROC: 0.65 [0.64, 0.66] | — | Gail BC risk model, Mammographic density (MD), Testoterone (T), estrone sulfate (E1S), prolactin (PRL) | Age-adjusted AUC |
| PPM013022 | PGS002294 (PRS111) |
PSS009652| East Asian Ancestry| 1,104 individuals |
PGP000324 | Yang Y et al. JAMA Netw Open (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.648 [0.613, 0.682] | — | Nongenetic risk score (body mass index, waist-to-hip ratio (WHR), benign breast disease, age at menarche, age at first live birth, family history of breast cancer) | — |
| PPM000940 | PGS000004 (PRS313_BC) |
PSS000482| European Ancestry| 84,607 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.39 [1.13, 1.7] | — | — | Age, country, PCs (1-10) | — |
| PPM000106 | PGS000045 (BCPRS_Overall) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.14 [1.11, 1.17] | C-index: 0.541 [0.53, 0.551] | — | Country, birth year | — |
| PPM000107 | PGS000045 (BCPRS_Overall) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.28] | C-index: 0.566 [0.551, 0.581] | — | Country, birth year | — |
| PPM000108 | PGS000046 (BCPRS_ER+) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.11 [1.08, 1.15] | C-index: 0.532 [0.522, 0.543] | — | Country, birth year | — |
| PPM000109 | PGS000046 (BCPRS_ER+) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.16, 1.27] | C-index: 0.566 [0.551, 0.581] | — | Country, birth year | — |
| PPM000938 | PGS000004 (PRS313_BC) |
PSS000482| European Ancestry| 84,607 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.3 [1.26, 1.35] | — | — | Age, country | — |
| PPM000192 | PGS000072 (CC_Breast) |
PSS000111| European Ancestry| 237,549 individuals |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Reported Trait: Breast cancer | OR: 1.26 [1.24, 1.28] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, 10 PCs. | Results from meta-analysis of GERA and UKB |
| PPM000002 | PGS000002 (PRS77_ERpos) |
PSS000003| European Ancestry| 53,923 individuals |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
Reported Trait: ER-positive breast cancer | OR: 1.63 [1.6, 1.67] | — | — | — | — |
| PPM000130 | PGS000051 (PRS67) |
PSS000080| Multi-ancestry (including European)| 11,880 individuals |
PGP000036 | Zhang X et al. PLoS Med (2018) |
Reported Trait: Invasive breast cancer | — | — | Relative Risk (RR; higest vs. lowest quartile PRS): 2.5 [2.2, 2.8] | Demographics and parameters of baseline blood draw (age, BMI, fasting status, time of day, season), history of benign breast disease, family history of breast cancer, age at menopause, age at menarche, physical activity, age at first birth and parity | — |
| PPM000060 | PGS000028 (PRS) |
PSS000039| European Ancestry| 774 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.63 [0.59, 0.67] | — | — | — |
| PPM000386 | PGS000007 (PRS3820_BC) |
PSS000218| European Ancestry| 9,529 individuals |
PGP000057 | Homburger JR et al. Genome Med (2019) |Ext. |
Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.78 | — | age, sex | — |
| PPM001345 | PGS000004 (PRS313_BC) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer | HR: 1.55 [1.52, 1.58] | — | — | 10 ancestry PCs, batch, age as time scale | 260/313 variants in the PRS are polymorphic in FinnGen |
| PPM000024 | PGS000015 (GPS_BC) |
PSS000014| European Ancestry| 157,895 individuals |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Reported Trait: Breast cancer | — | AUROC: 0.69 [0.68, 0.69] | Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.027 | age; sex; Ancestry PC 1-4; genotyping chip | — |
| PPM000110 | PGS000047 (BCPRS_ER-) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.27 [1.23, 1.31] | C-index: 0.581 [0.571, 0.592] | — | Country, birth year | — |
| PPM000111 | PGS000047 (BCPRS_ER-) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.15 [1.1, 1.2] | C-index: 0.538 [0.523, 0.553] | — | Country, birth year | — |
| PPM000114 | PGS000001 (PRS77_BC) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.13 [1.1, 1.16] | — | — | Country, birth year | — |
| PPM000115 | PGS000002 (PRS77_ERpos) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.09 [1.06, 1.12] | — | — | Country, birth year | — |
| PPM000116 | PGS000003 (PRS77_ERneg) |
PSS000070| European Ancestry| 15,252 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA1 mutation carriers | HR: 1.24 [1.21, 1.28] | — | — | Country, birth year | — |
| PPM000117 | PGS000001 (PRS77_BC) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.28] | — | — | Country, birth year | — |
| PPM000118 | PGS000002 (PRS77_ERpos) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.22 [1.17, 1.27] | — | — | Country, birth year | — |
| PPM000119 | PGS000003 (PRS77_ERneg) |
PSS000071| European Ancestry| 8,211 individuals |
PGP000033 | Kuchenbaecker KB et al. J Natl Cancer Inst (2017) |Ext. |
Reported Trait: Breast cancer in BRCA2 mutation carriers | HR: 1.13 [1.08, 1.18] | — | — | Country, birth year | — |
| PPM000131 | PGS000052 (sPRS161) |
PSS000082| European Ancestry| 585 individuals |
PGP000037 | Lakeman IMM et al. J Med Genet (2019) |
Reported Trait: breast cancer | HR: 1.16 [1.03, 1.28] | — | — | family history (estimated using the BOADICEA risk model) | — |
| PPM000384 | PGS000007 (PRS3820_BC) |
PSS000218| European Ancestry| 9,529 individuals |
PGP000057 | Homburger JR et al. Genome Med (2019) |Ext. |
Reported Trait: Breast Cancer (personal history) | OR: 1.56 [1.45, 1.68] | — | — | age at menarche | — |
| PPM000059 | PGS000028 (PRS) |
PSS000038| East Asian Ancestry| 102 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.62 [0.52, 0.73] | — | — | — |
| PPM000899 | PGS000332 (PRS_BC) |
PSS000444| European Ancestry| 37,841 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Incident breast cancer | — | C-index: 0.75 | — | age, family history of breast cancer, current smoking, BMI, alcohol use disorder, years of hormone replacement therapy, having given birth to one or more children, genotyping array/batch, 10 ancestry PCs | 10-year risk |
| PPM000894 | PGS000332 (PRS_BC) |
PSS000444| European Ancestry| 37,841 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Incident breast cancer | — | C-index: 0.737 | — | age, genotyping array/batch, 10 ancestry PCs | 10-year risk |
| PPM000001 | PGS000001 (PRS77_BC) |
PSS000001| European Ancestry| 67,054 individuals |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
Reported Trait: All breast cancer | OR: 1.55 [1.52, 1.58] | C-index: 0.622 [0.619, 0.627] | — | — | — |
| PPM000003 | PGS000003 (PRS77_ERneg) |
PSS000002| European Ancestry| 38,722 individuals |
PGP000001 | Mavaddat N et al. J Natl Cancer Inst (2015) |
Reported Trait: ER-negative breast cancer | OR: 1.45 [1.4, 1.49] | — | — | — | — |
| PPM000057 | PGS000029 (PRS_AS) |
PSS000038| East Asian Ancestry| 102 individuals |
PGP000018 | Shieh Y et al. Breast Cancer Res Treat (2016) |
Reported Trait: Breast cancer | — | AUROC: 0.64 [0.53, 0.74] | — | — | — |
| PPM000388 | PGS000007 (PRS3820_BC) |
PSS000218| European Ancestry| 9,529 individuals |
PGP000057 | Homburger JR et al. Genome Med (2019) |Ext. |
Reported Trait: Breast Cancer (personal history) | — | AUROC: 0.63 | — | — | — |
| PPM000484 | PGS000153 (cGRS_Breast) |
PSS000273| European Ancestry| 7,847 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Breast cancer | — | — | Odds Ratio (OR; high vs. average risk groups): 1.47 [1.23, 1.76] | — | — |
| PPM000473 | PGS000153 (cGRS_Breast) |
PSS000273| European Ancestry| 7,847 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Breast cancer | — | — | Mean realative risk: 1.15 [1.11, 1.2] Wilcoxon test (case vs. control) p-value: 1.48e-14 |
— | — |
| PPM000964 | PGS000005 (PRS313_ERpos) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.22 [1.15, 1.3] | — | — | Country | — |
| PPM000963 | PGS000005 (PRS313_ERpos) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.23 [1.16, 1.31] | — | — | Country | — |
| PPM000962 | PGS000001 (PRS77_BC) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
| PPM000947 | PGS000005 (PRS313_ERpos) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.22 [1.15, 1.3] | — | — | Country | — |
| PPM000946 | PGS000005 (PRS313_ERpos) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.23 [1.16, 1.31] | — | — | Country | — |
| PPM000945 | PGS000001 (PRS77_BC) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.21 [1.13, 1.29] | — | — | Country | — |
| PPM000944 | PGS000001 (PRS77_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
| PPM000941 | PGS000004 (PRS313_BC) |
PSS000483| European Ancestry| 143,830 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.67 [1.59, 1.76] | — | — | Age, country, PCs (1-10) | — |
| PPM000957 | PGS000004 (PRS313_BC) |
PSS000482| European Ancestry| 84,607 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.39 [1.13, 1.7] | — | — | Age, country, PCs (1-10) | — |
| PPM000959 | PGS000004 (PRS313_BC) |
PSS000481| Additional Asian Ancestries| 12,473 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.15 [1.02, 1.29] | — | — | Age, country | — |
| PPM000955 | PGS000004 (PRS313_BC) |
PSS000482| European Ancestry| 84,607 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.3 [1.26, 1.35] | — | — | Age, country | — |
| PPM001347 | PGS000004 (PRS313_BC) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer | OR: 1.61 [1.57, 1.64] | — | — | Age, 10 ancestry PCs, batch | 260/313 variants in the PRS are polymorphic in FinnGen |
| PPM000965 | PGS000005 (PRS313_ERpos) |
PSS000485| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.37 [1.22, 1.54] | — | — | Country | — |
| PPM000961 | PGS000001 (PRS77_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.21 [1.14, 1.29] | — | — | Country | — |
| PPM000958 | PGS000004 (PRS313_BC) |
PSS000483| European Ancestry| 143,830 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.67 [1.59, 1.76] | — | — | Age, country, PCs (1-10) | — |
| PPM000954 | PGS000004 (PRS313_BC) |
PSS000485| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.38 [1.23, 1.55] | — | — | Country | — |
| PPM000953 | PGS000004 (PRS313_BC) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.32] | — | — | Country | — |
| PPM000951 | PGS000004 (PRS313_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.18, 1.33] | C-index: 0.563 [0.547, 0.586] | — | Country | — |
| PPM000950 | PGS000006 (PRS313_ERneg) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.33] | — | — | Country | — |
| PPM000949 | PGS000006 (PRS313_ERneg) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.17, 1.33] | — | — | Country | — |
| PPM000948 | PGS000005 (PRS313_ERpos) |
PSS000485| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.37 [1.22, 1.54] | — | — | Country | — |
| PPM000942 | PGS000004 (PRS313_BC) |
PSS000481| Additional Asian Ancestries| 12,473 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Contralateral breast cancer | OR: 1.15 [1.02, 1.29] | — | — | Age, country | — |
| PPM000960 | PGS000004 (PRS313_BC) |
PSS000480| Additional Asian Ancestries| 25,531 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.56 [1.52, 1.6] | — | — | Age, country | — |
| PPM000956 | PGS000004 (PRS313_BC) |
PSS000483| European Ancestry| 143,830 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.82 [1.8, 1.84] | — | — | Age, country | — |
| PPM000943 | PGS000004 (PRS313_BC) |
PSS000480| Additional Asian Ancestries| 25,531 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.56 [1.52, 1.6] | — | — | Age, country | — |
| PPM000937 | PGS000004 (PRS313_BC) |
PSS000485| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Estrogen-receptor positive metachronous invasive contralateral breast cancer | HR: 1.38 [1.23, 1.55] | — | — | Country | — |
| PPM000936 | PGS000004 (PRS313_BC) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.32] | — | — | Country | — |
| PPM000935 | PGS000004 (PRS313_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | — | C-index: 0.623 [0.591, 0.629] | — | Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy) | — |
| PPM000934 | PGS000004 (PRS313_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.18, 1.33] | C-index: 0.563 [0.547, 0.586] | — | Country | — |
| PPM000967 | PGS000006 (PRS313_ERneg) |
PSS000486| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Invasive metachronous contralateral breast cancer | HR: 1.24 [1.16, 1.33] | — | — | Country | — |
| PPM000966 | PGS000006 (PRS313_ERneg) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | HR: 1.25 [1.17, 1.33] | — | — | Country | — |
| PPM000952 | PGS000004 (PRS313_BC) |
PSS000484| European Ancestry| 56,068 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Metachronous contralateral breast cancer | — | C-index: 0.623 [0.591, 0.629] | — | Country, age at first diagnosis, year of first diagnosis, family history for breast cancer in a first degree relative, clinical characteristics of the first breast cancer (nodal status, tumor size, differentiation grade, morphology, estrogen receptor status, human epidermal growth factor receptor 2 status, chemotherapy, endocrine therapy, radiotherapy) | — |
| PPM000983 | PGS000345 (PRS229_BC) |
PSS000491| Additional Asian Ancestries| 32,238 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.49 [1.45, 1.52] | AUROC: 0.611 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000982 | PGS000345 (PRS229_BC) |
PSS000500| East Asian Ancestry| 10,255 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Incident breast cancer | HR: 1.49 [1.33, 1.67] | C-index: 0.61 | — | PCs (1-7), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000981 | PGS000346 (PRS287_ERneg) |
PSS000498| Additional Asian Ancestries| 1,492 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-negative breast cancer | OR: 1.49 [1.26, 1.75] | AUROC: 0.587 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000980 | PGS000347 (PRS287_ERpos) |
PSS000499| Additional Asian Ancestries| 2,234 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-positive breast cancer | OR: 1.38 [1.25, 1.53] | AUROC: 0.586 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000979 | PGS000344 (PRS287_BC) |
PSS000497| Additional Asian Ancestries| 2,719 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.36 [1.25, 1.49] | AUROC: 0.577 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000978 | PGS000346 (PRS287_ERneg) |
PSS000495| Multi-ancestry (excluding European)| 9,391 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-negative breast cancer | OR: 1.43 [1.35, 1.52] | — | — | PCs (1-10), study, array,batch | — |
| PPM000977 | PGS000347 (PRS287_ERpos) |
PSS000496| Multi-ancestry (excluding European)| 12,222 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-positive breast cancer | OR: 1.59 [1.53, 1.66] | — | — | PCs (1-10), study, array,batch | — |
| PPM000976 | PGS000344 (PRS287_BC) |
PSS000494| Multi-ancestry (excluding European)| 14,406 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.55 [1.5, 1.61] | — | — | PCs (1-10), study, array,batch | — |
| PPM000974 | PGS000347 (PRS287_ERpos) |
PSS000492| Additional Asian Ancestries| 26,960 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-positive breast cancer | OR: 1.62 [1.57, 1.67] | AUROC: 0.627 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000973 | PGS000344 (PRS287_BC) |
PSS000491| Additional Asian Ancestries| 32,238 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.52 [1.49, 1.56] | AUROC: 0.613 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000939 | PGS000004 (PRS313_BC) |
PSS000483| European Ancestry| 143,830 individuals |
PGP000109 | Kramer I et al. Am J Hum Genet (2020) |Ext. |
Reported Trait: Unilateral breast cancer | OR: 1.82 [1.8, 1.84] | — | — | Age, country | — |
| PPM001205 | PGS000520 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.188 [1.158, 1.22] β: 0.172 (0.0133) |
AUROC: 0.549 [0.542, 0.556] | Nagelkerke's Pseudo-R²: 0.00537 Brier score: 0.0826 Odds Ratio (OR, top 1% vs. Rest): 1.82 [1.48, 2.22] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608 |
| PPM001206 | PGS000521 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.22 [1.149, 1.295] β: 0.199 (0.0304) |
AUROC: 0.548 [0.53, 0.564] | Nagelkerke's Pseudo-R²: 0.00934 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.18, 2.99] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_MGI_20200608 |
| PPM001208 | PGS000523 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.225 [1.155, 1.299] β: 0.203 (0.0301) |
AUROC: 0.546 [0.529, 0.562] | Nagelkerke's Pseudo-R²: 0.00979 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 2.11 [1.34, 3.33] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608 |
| PPM001209 | PGS000524 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.2 [1.169, 1.231] β: 0.182 (0.0131) |
AUROC: 0.547 [0.54, 0.555] | Nagelkerke's Pseudo-R²: 0.0061 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 1.72 [1.4, 2.11] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608 |
| PPM001211 | PGS000526 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.424 [1.387, 1.461] β: 0.353 (0.0132) |
AUROC: 0.597 [0.59, 0.604] | Nagelkerke's Pseudo-R²: 0.0228 Brier score: 0.0819 Odds Ratio (OR, top 1% vs. Rest): 2.68 [2.25, 3.19] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608 |
| PPM001212 | PGS000527 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.509 [1.418, 1.605] β: 0.411 (0.0314) |
AUROC: 0.613 [0.595, 0.63] | Nagelkerke's Pseudo-R²: 0.0383 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 3.75 [2.55, 5.51] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608 |
| PPM001214 | PGS000529 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.43 [1.346, 1.52] β: 0.358 (0.0311) |
AUROC: 0.597 [0.58, 0.612] | Nagelkerke's Pseudo-R²: 0.0281 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.98 [1.98, 4.47] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_MGI_20200608 |
| PPM001012 | PGS000004 (PRS313_BC) |
PSS000521| European Ancestry| 18,935 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA1 carriers | HR: 1.2 [1.17, 1.23] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001013 | PGS000004 (PRS313_BC) |
PSS000525| European Ancestry| 12,339 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA2 carriers | HR: 1.31 [1.26, 1.36] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001014 | PGS000004 (PRS313_BC) |
PSS000522| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA1 carriers | HR: 1.09 [1.05, 1.13] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001015 | PGS000004 (PRS313_BC) |
PSS000526| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA2 carriers | HR: 1.19 [1.1, 1.29] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001016 | PGS000004 (PRS313_BC) |
PSS000523| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA1 carriers | HR: 1.44 [1.35, 1.54] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001017 | PGS000004 (PRS313_BC) |
PSS000527| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA2 carriers | HR: 1.36 [1.3, 1.43] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001018 | PGS000005 (PRS313_ERpos) |
PSS000521| European Ancestry| 18,935 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA1 carriers | HR: 1.17 [1.14, 1.2] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001019 | PGS000005 (PRS313_ERpos) |
PSS000525| European Ancestry| 12,339 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA2 carriers | HR: 1.3 [1.26, 1.35] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001020 | PGS000005 (PRS313_ERpos) |
PSS000522| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA1 carriers | HR: 1.06 [1.02, 1.1] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001021 | PGS000005 (PRS313_ERpos) |
PSS000526| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA2 carriers | HR: 1.15 [1.07, 1.25] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001022 | PGS000005 (PRS313_ERpos) |
PSS000523| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA1 carriers | HR: 1.45 [1.35, 1.54] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001023 | PGS000005 (PRS313_ERpos) |
PSS000527| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA2 carriers | HR: 1.37 [1.31, 1.44] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001024 | PGS000006 (PRS313_ERneg) |
PSS000521| European Ancestry| 18,935 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA1 carriers | HR: 1.29 [1.25, 1.33] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001025 | PGS000006 (PRS313_ERneg) |
PSS000525| European Ancestry| 12,339 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Breast cancer in BRCA2 carriers | HR: 1.23 [1.18, 1.27] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001026 | PGS000006 (PRS313_ERneg) |
PSS000522| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA1 carriers | HR: 1.23 [1.18, 1.27] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001027 | PGS000006 (PRS313_ERneg) |
PSS000526| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER negative breast cancer in BRCA2 carriers | HR: 1.29 [1.19, 1.41] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001028 | PGS000006 (PRS313_ERneg) |
PSS000523| European Ancestry| 13,401 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA1 carriers | HR: 1.29 [1.21, 1.37] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001029 | PGS000006 (PRS313_ERneg) |
PSS000527| European Ancestry| 8,752 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: ER positive breast cancer in BRCA2 carriers | HR: 1.21 [1.15, 1.27] | — | — | birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives | — |
| PPM001034 | PGS000006 (PRS313_ERneg) |
PSS000529| European Ancestry| 2,088 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in BRCA1 carriers | HR: 1.28 [1.14, 1.44] | — | — | family history of the appropriate cancer in first- and second-degree relatives | — |
| PPM001035 | PGS000004 (PRS313_BC) |
PSS000531| European Ancestry| 1,757 individuals |
PGP000117 | Barnes DR et al. Genet Med (2020) |Ext. |
Reported Trait: Incidient breast cancer in BRCA2 carriers | HR: 1.36 [1.17, 1.57] | — | — | family history of the appropriate cancer in first- and second-degree relatives | — |
| PPM001157 | PGS000472 (PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.343 [1.266, 1.426] β: 0.295 (0.0303) |
AUROC: 0.579 [0.561, 0.597] | Nagelkerke's Pseudo-R²: 0.0204 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 2.32 [1.49, 3.61] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_P_5e-08_MGI_20200608 |
| PPM001160 | PGS000475 (PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.349 [1.269, 1.434] β: 0.299 (0.0312) |
AUROC: 0.586 [0.57, 0.603] | Nagelkerke's Pseudo-R²: 0.0196 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.59 [0.962, 2.62] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_LASSOSUM_MGI_20200608 |
| PPM001163 | PGS000478 (PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.411 [1.328, 1.5] β: 0.344 (0.031) |
AUROC: 0.595 [0.578, 0.611] | Nagelkerke's Pseudo-R²: 0.0257 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.31 [1.47, 3.61] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_PT_MGI_20200608 |
| PPM001166 | PGS000481 (PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.323 [1.246, 1.406] β: 0.28 (0.0307) |
AUROC: 0.578 [0.56, 0.596] | Nagelkerke's Pseudo-R²: 0.0183 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.29, 3.2] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_PRS-CS_MGI_20200608 |
| PPM001169 | PGS000484 (PRSWEB_PHECODE174.1_D05_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.12 [1.056, 1.187] β: 0.113 (0.0297) |
AUROC: 0.52 [0.504, 0.538] | Nagelkerke's Pseudo-R²: 0.00286 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 1.39 [0.817, 2.36] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_D05_PT_MGI_20200608 |
| PPM001172 | PGS000487 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.488 [1.399, 1.582] β: 0.397 (0.0313) |
AUROC: 0.607 [0.589, 0.623] | Nagelkerke's Pseudo-R²: 0.0346 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 3.06 [2.04, 4.6] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_MGI_20200608 |
| PPM001175 | PGS000490 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | β: 0.221 (0.0132) OR: 1.248 [1.216, 1.28] |
AUROC: 0.559 [0.551, 0.566] | Nagelkerke's Pseudo-R²: 0.00891 Brier score: 0.0824 Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.67, 2.46] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608 |
| PPM001178 | PGS000493 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.31 [1.234, 1.391] β: 0.27 (0.0306) |
AUROC: 0.576 [0.559, 0.593] | Nagelkerke's Pseudo-R²: 0.0173 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.84 [1.14, 2.97] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_MGI_20200608 |
| PPM001181 | PGS000496 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.323 [1.289, 1.358] β: 0.28 (0.0133) |
AUROC: 0.576 [0.568, 0.583] | Nagelkerke's Pseudo-R²: 0.0141 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 2.25 [1.86, 2.71] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_UKB_20200608 |
| PPM001195 | PGS000510 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.612 [1.57, 1.656] β: 0.478 (0.0136) |
AUROC: 0.63 [0.623, 0.637] | Nagelkerke's Pseudo-R²: 0.0401 Brier score: 0.0811 Odds Ratio (OR, top 1% vs. Rest): 3.32 [2.83, 3.9] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_UKB_20200608 |
| PPM001198 | PGS000513 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.402 [1.32, 1.489] β: 0.338 (0.0307) |
AUROC: 0.595 [0.577, 0.612] | Nagelkerke's Pseudo-R²: 0.0259 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 1.8 [1.12, 2.91] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_P_5e-08_MGI_20200608 |
| PPM001201 | PGS000516 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.477 [1.39, 1.57] β: 0.39 (0.031) |
AUROC: 0.609 [0.592, 0.624] | Nagelkerke's Pseudo-R²: 0.034 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.21, 3.11] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_LASSOSUM_MGI_20200608 |
| PPM001204 | PGS000519 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.151 [1.084, 1.221] β: 0.14 (0.0305) |
AUROC: 0.539 [0.52, 0.556] | Nagelkerke's Pseudo-R²: 0.00453 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 1.51 [0.907, 2.51] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608 |
| PPM001207 | PGS000522 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.201 [1.171, 1.233] β: 0.183 (0.0131) |
AUROC: 0.547 [0.54, 0.555] | Nagelkerke's Pseudo-R²: 0.00619 Brier score: 0.0825 Odds Ratio (OR, top 1% vs. Rest): 1.73 [1.41, 2.13] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_PT_UKB_20200608 |
| PPM001210 | PGS000525 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.427 [1.343, 1.516] β: 0.356 (0.0309) |
AUROC: 0.597 [0.58, 0.614] | Nagelkerke's Pseudo-R²: 0.0285 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.28 [1.46, 3.56] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608 |
| PPM001188 | PGS000503 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.656 [1.554, 1.766] β: 0.505 (0.0326) |
AUROC: 0.634 [0.618, 0.65] | Nagelkerke's Pseudo-R²: 0.0546 Brier score: 0.135 Odds Ratio (OR, top 1% vs. Rest): 4.03 [2.78, 5.85] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608 |
| PPM001192 | PGS000507 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.772 [1.659, 1.891] β: 0.572 (0.0334) |
AUROC: 0.651 [0.635, 0.666] | Nagelkerke's Pseudo-R²: 0.0661 Brier score: 0.133 Odds Ratio (OR, top 1% vs. Rest): 3.22 [2.15, 4.81] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_MGI_20200608 |
| PPM001213 | PGS000528 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.513 [1.474, 1.554] β: 0.414 (0.0136) |
AUROC: 0.614 [0.607, 0.62] | Nagelkerke's Pseudo-R²: 0.0303 Brier score: 0.0816 Odds Ratio (OR, top 1% vs. Rest): 2.98 [2.52, 3.52] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608 |
| PPM001216 | PGS000531 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.501 [1.411, 1.596] β: 0.406 (0.0314) |
AUROC: 0.61 [0.594, 0.626] | Nagelkerke's Pseudo-R²: 0.037 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 2.29 [1.47, 3.59] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_MGI_20200608 |
| PPM001219 | PGS000534 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.443 [1.406, 1.481] β: 0.367 (0.0132) |
AUROC: 0.601 [0.594, 0.608] | Nagelkerke's Pseudo-R²: 0.0246 Brier score: 0.0818 Odds Ratio (OR, top 1% vs. Rest): 2.5 [2.09, 2.99] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_UKB_20200608 |
| PPM001222 | PGS000537 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.498 [1.408, 1.593] β: 0.404 (0.0314) |
AUROC: 0.609 [0.592, 0.626] | Nagelkerke's Pseudo-R²: 0.0353 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 3.44 [2.31, 5.13] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_MGI_20200608 |
| PPM001225 | PGS000540 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.528 [1.489, 1.569] β: 0.424 (0.0134) |
AUROC: 0.615 [0.607, 0.622] | Nagelkerke's Pseudo-R²: 0.0322 Brier score: 0.0814 Odds Ratio (OR, top 1% vs. Rest): 3.55 [3.04, 4.16] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608 |
| PPM000984 | PGS000345 (PRS229_BC) |
PSS000497| Additional Asian Ancestries| 2,719 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.33 [1.22, 1.45] | AUROC: 0.579 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM000975 | PGS000346 (PRS287_ERneg) |
PSS000493| Additional Asian Ancestries| 21,247 individuals |
PGP000112 | Ho WK et al. Nat Commun (2020) |
Reported Trait: ER-negative breast cancer | OR: 1.41 [1.36, 1.46] | AUROC: 0.594 | — | PCs (1-10), study, array,batch | Standardised to SDs of PRs in European controls |
| PPM001158 | PGS000473 (PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.315 [1.238, 1.398] β: 0.274 (0.0311) |
AUROC: 0.576 [0.56, 0.592] | Nagelkerke's Pseudo-R²: 0.0167 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.981, 2.62] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_PRS-CS_MGI_20200608 |
| PPM001159 | PGS000474 (PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.338 [1.26, 1.422] β: 0.291 (0.0308) |
AUROC: 0.58 [0.563, 0.597] | Nagelkerke's Pseudo-R²: 0.0188 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.54 [0.924, 2.56] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_20001-1002_PT_MGI_20200608 |
| PPM001161 | PGS000476 (PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.365 [1.286, 1.45] β: 0.311 (0.0305) |
AUROC: 0.585 [0.569, 0.603] | Nagelkerke's Pseudo-R²: 0.0218 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.97 [1.24, 3.14] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_P_5e-08_MGI_20200608 |
| PPM001162 | PGS000477 (PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.338 [1.259, 1.421] β: 0.291 (0.0308) |
AUROC: 0.581 [0.564, 0.597] | Nagelkerke's Pseudo-R²: 0.0193 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 2.17 [1.38, 3.41] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_PRS-CS_MGI_20200608 |
| PPM001164 | PGS000479 (PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.438 [1.354, 1.528] β: 0.364 (0.0308) |
AUROC: 0.6 [0.584, 0.616] | Nagelkerke's Pseudo-R²: 0.03 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.37 [1.54, 3.65] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C3-BREAST-3_LASSOSUM_MGI_20200608 |
| PPM001167 | PGS000482 (PRSWEB_PHECODE174.1_C50_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.358 [1.279, 1.442] β: 0.306 (0.0306) |
AUROC: 0.584 [0.568, 0.601] | Nagelkerke's Pseudo-R²: 0.0212 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.43 [0.853, 2.41] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_PT_MGI_20200608 |
| PPM001168 | PGS000483 (PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.404 [1.322, 1.491] β: 0.339 (0.0308) |
AUROC: 0.595 [0.579, 0.61] | Nagelkerke's Pseudo-R²: 0.0264 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.05 [1.3, 3.24] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_LASSOSUM_MGI_20200608 |
| PPM001170 | PGS000485 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.488 [1.399, 1.582] β: 0.397 (0.0313) |
AUROC: 0.607 [0.589, 0.623] | Nagelkerke's Pseudo-R²: 0.0346 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 3.06 [2.04, 4.6] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_MGI_20200608 |
| PPM001171 | PGS000486 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.4 [1.363, 1.437] β: 0.336 (0.0134) |
AUROC: 0.592 [0.585, 0.6] | Nagelkerke's Pseudo-R²: 0.0202 Brier score: 0.082 Odds Ratio (OR, top 1% vs. Rest): 2.58 [2.16, 3.07] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_P_5e-08_UKB_20200608 |
| PPM001173 | PGS000488 (PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.426 [1.389, 1.464] β: 0.355 (0.0134) |
AUROC: 0.598 [0.59, 0.605] | Nagelkerke's Pseudo-R²: 0.0226 Brier score: 0.0819 Odds Ratio (OR, top 1% vs. Rest): 2.68 [2.25, 3.18] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_GWAS-Catalog-r2019-05-03-X174.1_PT_UKB_20200608 |
| PPM001174 | PGS000489 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.254 [1.181, 1.33] β: 0.226 (0.0304) |
AUROC: 0.564 [0.547, 0.58] | Nagelkerke's Pseudo-R²: 0.012 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 1.72 [1.05, 2.81] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608 |
| PPM001176 | PGS000491 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.326 [1.246, 1.411] β: 0.282 (0.0317) |
AUROC: 0.578 [0.56, 0.594] | Nagelkerke's Pseudo-R²: 0.0179 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.8 [1.13, 2.88] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_MGI_20200608 |
| PPM001177 | PGS000492 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.33 [1.296, 1.366] β: 0.286 (0.0134) |
AUROC: 0.579 [0.572, 0.586] | Nagelkerke's Pseudo-R²: 0.0146 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 2.34 [1.95, 2.82] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PRS-CS_UKB_20200608 |
| PPM001179 | PGS000494 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.248 [1.216, 1.28] β: 0.221 (0.0132) |
AUROC: 0.559 [0.551, 0.566] | Nagelkerke's Pseudo-R²: 0.00891 Brier score: 0.0824 Odds Ratio (OR, top 1% vs. Rest): 2.03 [1.67, 2.46] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_PT_UKB_20200608 |
| PPM001180 | PGS000495 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.297 [1.221, 1.377] β: 0.26 (0.0307) |
AUROC: 0.571 [0.555, 0.588] | Nagelkerke's Pseudo-R²: 0.0152 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.87 [1.16, 3.01] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-negative-BRCA_LASSOSUM_MGI_20200608 |
| PPM001182 | PGS000497 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.521 [1.43, 1.619] β: 0.42 (0.0316) |
AUROC: 0.614 [0.599, 0.63] | Nagelkerke's Pseudo-R²: 0.0383 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 2.35 [1.51, 3.66] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_MGI_20200608 |
| PPM001183 | PGS000498 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.513 [1.474, 1.553] β: 0.414 (0.0133) |
AUROC: 0.613 [0.606, 0.621] | Nagelkerke's Pseudo-R²: 0.0311 Brier score: 0.0815 Odds Ratio (OR, top 1% vs. Rest): 2.71 [2.28, 3.23] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_P_5e-08_UKB_20200608 |
| PPM001184 | PGS000499 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.708 [1.601, 1.822] β: 0.535 (0.033) |
AUROC: 0.643 [0.627, 0.658] | Nagelkerke's Pseudo-R²: 0.0603 Brier score: 0.134 Odds Ratio (OR, top 1% vs. Rest): 3.71 [2.52, 5.47] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_MGI_20200608 |
| PPM001186 | PGS000501 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.564 [1.469, 1.665] β: 0.447 (0.0318) |
AUROC: 0.621 [0.605, 0.638] | Nagelkerke's Pseudo-R²: 0.0438 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 2.7 [1.77, 4.1] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_MGI_20200608 |
| PPM001187 | PGS000502 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.555 [1.514, 1.596] β: 0.441 (0.0135) |
AUROC: 0.621 [0.614, 0.628] | Nagelkerke's Pseudo-R²: 0.0347 Brier score: 0.0814 Odds Ratio (OR, top 1% vs. Rest): 3.36 [2.87, 3.95] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PT_UKB_20200608 |
| PPM001189 | PGS000504 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.621 [1.578, 1.665] β: 0.483 (0.0136) |
AUROC: 0.631 [0.624, 0.638] | Nagelkerke's Pseudo-R²: 0.0408 Brier score: 0.0811 Odds Ratio (OR, top 1% vs. Rest): 3.86 [3.31, 4.5] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608 |
| PPM001190 | PGS000505 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.584 [1.488, 1.686] β: 0.46 (0.0318) |
AUROC: 0.625 [0.609, 0.641] | Nagelkerke's Pseudo-R²: 0.0462 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 3.32 [2.24, 4.93] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_MGI_20200608 |
| PPM001215 | PGS000530 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.441 [1.404, 1.479] β: 0.365 (0.0132) |
AUROC: 0.6 [0.593, 0.608] | Nagelkerke's Pseudo-R²: 0.0245 Brier score: 0.0818 Odds Ratio (OR, top 1% vs. Rest): 2.92 [2.47, 3.46] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_PT_UKB_20200608 |
| PPM001217 | PGS000532 (PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.49 [1.451, 1.529] β: 0.399 (0.0134) |
AUROC: 0.608 [0.601, 0.615] | Nagelkerke's Pseudo-R²: 0.0285 Brier score: 0.0816 Odds Ratio (OR, top 1% vs. Rest): 3.0 [2.54, 3.54] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-positive-BRCA_LASSOSUM_UKB_20200608 |
| PPM001218 | PGS000533 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.489 [1.401, 1.583] β: 0.398 (0.0312) |
AUROC: 0.607 [0.591, 0.623] | Nagelkerke's Pseudo-R²: 0.0354 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.51 [1.63, 3.86] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_P_5e-08_MGI_20200608 |
| PPM001220 | PGS000535 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.568 [1.473, 1.668] β: 0.45 (0.0317) |
AUROC: 0.622 [0.605, 0.638] | Nagelkerke's Pseudo-R²: 0.0443 Brier score: 0.135 Odds Ratio (OR, top 1% vs. Rest): 3.43 [2.32, 5.05] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_MGI_20200608 |
| PPM001221 | PGS000536 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.571 [1.53, 1.614] β: 0.452 (0.0136) |
AUROC: 0.623 [0.615, 0.63] | Nagelkerke's Pseudo-R²: 0.036 Brier score: 0.0813 Odds Ratio (OR, top 1% vs. Rest): 3.54 [3.02, 4.14] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PRS-CS_UKB_20200608 |
| PPM001224 | PGS000539 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.585 [1.489, 1.687] β: 0.46 (0.0319) |
AUROC: 0.624 [0.607, 0.641] | Nagelkerke's Pseudo-R²: 0.0464 Brier score: 0.136 Odds Ratio (OR, top 1% vs. Rest): 2.49 [1.61, 3.84] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608 |
| PPM001346 | PGS000332 (PRS_BC) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer | HR: 1.63 [1.6, 1.67] | — | — | 10 ancestry PCs, batch, age as time scale | — |
| PPM001191 | PGS000506 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.567 [1.526, 1.609] β: 0.449 (0.0134) |
AUROC: 0.622 [0.615, 0.63] | Nagelkerke's Pseudo-R²: 0.0361 Brier score: 0.0813 Odds Ratio (OR, top 1% vs. Rest): 3.69 [3.16, 4.31] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_P_5e-08_UKB_20200608 |
| PPM001193 | PGS000508 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.756 [1.709, 1.804] β: 0.563 (0.0138) |
AUROC: 0.652 [0.645, 0.658] | Nagelkerke's Pseudo-R²: 0.0548 Brier score: 0.0805 Odds Ratio (OR, top 1% vs. Rest): 4.38 [3.79, 5.07] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PRS-CS_UKB_20200608 |
| PPM001194 | PGS000509 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.643 [1.542, 1.75] β: 0.496 (0.0323) |
AUROC: 0.635 [0.618, 0.651] | Nagelkerke's Pseudo-R²: 0.0532 Brier score: 0.135 Odds Ratio (OR, top 1% vs. Rest): 2.84 [1.88, 4.28] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_PT_MGI_20200608 |
| PPM001196 | PGS000511 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.7 [1.594, 1.813] β: 0.53 (0.0328) |
AUROC: 0.641 [0.625, 0.656] | Nagelkerke's Pseudo-R²: 0.0592 Brier score: 0.134 Odds Ratio (OR, top 1% vs. Rest): 2.48 [1.63, 3.77] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_MGI_20200608 |
| PPM001197 | PGS000512 (PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.699 [1.654, 1.746] β: 0.53 (0.0138) |
AUROC: 0.643 [0.637, 0.65] | Nagelkerke's Pseudo-R²: 0.0487 Brier score: 0.0807 Odds Ratio (OR, top 1% vs. Rest): 4.02 [3.46, 4.67] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-Overall-BRCA_LASSOSUM_UKB_20200608 |
| PPM001199 | PGS000514 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.391 [1.309, 1.478] β: 0.33 (0.031) |
AUROC: 0.59 [0.573, 0.607] | Nagelkerke's Pseudo-R²: 0.0248 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.12, 2.86] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PRS-CS_MGI_20200608 |
| PPM001200 | PGS000515 (PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.453 [1.367, 1.544] β: 0.374 (0.0311) |
AUROC: 0.605 [0.588, 0.621] | Nagelkerke's Pseudo-R²: 0.0307 Brier score: 0.137 Odds Ratio (OR, top 1% vs. Rest): 2.09 [1.31, 3.32] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_UKBB-SAIGE-HRC-X174.1_PT_MGI_20200608 |
| PPM001202 | PGS000517 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.229 [1.157, 1.305] β: 0.206 (0.0306) |
AUROC: 0.55 [0.533, 0.566] | Nagelkerke's Pseudo-R²: 0.0097 Brier score: 0.139 Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.17, 3.03] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_MGI_20200608 |
| PPM001203 | PGS000518 (PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.18 [1.15, 1.21] β: 0.165 (0.0131) |
AUROC: 0.542 [0.534, 0.55] | Nagelkerke's Pseudo-R²: 0.00504 Brier score: 0.0826 Odds Ratio (OR, top 1% vs. Rest): 1.49 [1.2, 1.86] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-ER-negative-BRCA_P_5e-08_UKB_20200608 |
| PPM001185 | PGS000500 (PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.674 [1.63, 1.719] β: 0.515 (0.0137) |
AUROC: 0.64 [0.634, 0.647] | Nagelkerke's Pseudo-R²: 0.0463 Brier score: 0.0809 Odds Ratio (OR, top 1% vs. Rest): 3.64 [3.12, 4.25] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_Onco-iCOGS-ER-positive-BRCA_PRS-CS_UKB_20200608 |
| PPM001165 | PGS000480 (PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608) |
PSS000549| European Ancestry| 7,785 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.33 [1.253, 1.412] β: 0.285 (0.0304) |
AUROC: 0.576 [0.559, 0.593] | Nagelkerke's Pseudo-R²: 0.0186 Brier score: 0.138 Odds Ratio (OR, top 1% vs. Rest): 1.91 [1.2, 3.03] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_C50_P_5e-08_MGI_20200608 |
| PPM001223 | PGS000538 (PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608) |
PSS000570| European Ancestry| 68,531 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Breast cancer [female] | OR: 1.448 [1.411, 1.486] β: 0.37 (0.0132) |
AUROC: 0.602 [0.594, 0.609] | Nagelkerke's Pseudo-R²: 0.025 Brier score: 0.0818 Odds Ratio (OR, top 1% vs. Rest): 2.78 [2.34, 3.3] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE174.1_iCOGS-Overall-BRCA_PT_UKB_20200608 |
| PPM001348 | PGS000332 (PRS_BC) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer | OR: 1.71 [1.67, 1.75] | — | — | Age, 10 ancestry PCs, batch | — |
| PPM000849 | PGS000317 (PRS180) |
PSS000407| Hispanic or Latin American Ancestry| 2,001 individuals |
PGP000094 | Shieh Y et al. J Natl Cancer Inst (2020) |
Reported Trait: Breast cancer (Latin american women) | OR: 1.54 [1.45, 1.63] | AUROC: 0.62 [0.61, 0.64] | — | study, genetic ancestry (ADMIXTURE) | — |
| PPM000654 | PGS000005 (PRS313_ERpos) |
PSS000361| European Ancestry| 22,594 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.54, 1.7] | AUROC: 0.6323 | — | — | — |
| PPM000903 | PGS000335 (BC_PRSCS) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |
Reported Trait: Breast cancer | OR: 1.8 [1.76, 1.84] | — | — | Age, 10 ancestry PCs, batch | — |
| PPM000889 | PGS000332 (PRS_BC) |
PSS000443| European Ancestry| 76,173 individuals |
PGP000100 | Mars N et al. Nat Med (2020) |
Reported Trait: Breast cancer (incident and prevalent cases) | HR: 1.64 [1.6, 1.69] | — | — | genotyping array/batch, 10 ancestry PCs | — |
| PPM000848 | PGS000317 (PRS180) |
PSS000408| Hispanic or Latin American Ancestry| 7,317 individuals |
PGP000094 | Shieh Y et al. J Natl Cancer Inst (2020) |
Reported Trait: Breast cancer (US Latinas) | OR: 1.62 [1.52, 1.71] | AUROC: 0.63 [0.62, 0.65] | — | study, genetic ancestry (ADMIXTURE) | — |
| PPM000846 | PGS000317 (PRS180) |
PSS000406| Hispanic or Latin American Ancestry| 12,280 individuals |
PGP000094 | Shieh Y et al. J Natl Cancer Inst (2020) |
Reported Trait: Breast cancer | OR: 1.58 [1.52, 1.64] | AUROC: 0.63 [0.62, 0.64] | — | study, genetic ancestry (ADMIXTURE) | — |
| PPM000902 | PGS000335 (BC_PRSCS) |
PSS000450| European Ancestry| 122,978 individuals |
PGP000102 | Mars N et al. Nat Commun (2020) |
Reported Trait: Breast cancer | HR: 1.71 [1.68, 1.75] | — | — | 10 ancestry PCs, batch, age as time scale | — |
| PPM000663 | PGS000005 (PRS313_ERpos) |
PSS000363| European Ancestry| 22,821 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.59 [1.51, 1.66] | AUROC: 0.6276 | — | — | — |
| PPM000662 | PGS000004 (PRS313_BC) |
PSS000363| European Ancestry| 22,821 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.38 [1.31, 1.44] | AUROC: 0.5877 | — | — | — |
| PPM000661 | PGS000216 (PRS330_TN) |
PSS000363| European Ancestry| 22,821 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) | OR: 1.65 [1.57, 1.73] | AUROC: 0.6358 | — | — | — |
| PPM000660 | PGS000005 (PRS313_ERpos) |
PSS000359| European Ancestry| 21,533 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.59 [1.48, 1.71] | AUROC: 0.6291 | — | — | — |
| PPM000659 | PGS000004 (PRS313_BC) |
PSS000359| European Ancestry| 21,533 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.49 [1.38, 1.6] | AUROC: 0.6093 | — | — | — |
| PPM000658 | PGS000215 (PRS330_HER2) |
PSS000359| European Ancestry| 21,533 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (HER2-enriched-like) | OR: 1.53 [1.42, 1.65] | AUROC: 0.6208 | — | — | — |
| PPM000657 | PGS000005 (PRS313_ERpos) |
PSS000362| European Ancestry| 22,497 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.66 [1.58, 1.75] | AUROC: 0.64 | — | — | — |
| PPM000656 | PGS000004 (PRS313_BC) |
PSS000362| European Ancestry| 22,497 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.68 [1.6, 1.77] | AUROC: 0.6432 | — | — | — |
| PPM000655 | PGS000214 (PRS330_LumB) |
PSS000362| European Ancestry| 22,497 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B-like) | OR: 1.69 [1.61, 1.77] | AUROC: 0.6431 | — | — | — |
| PPM000653 | PGS000004 (PRS313_BC) |
PSS000361| European Ancestry| 22,594 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.55, 1.71] | AUROC: 0.6336 | — | — | — |
| PPM000652 | PGS000213 (PRS330_LumBHER2neg) |
PSS000361| European Ancestry| 22,594 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal B/HER2-negative-like) | OR: 1.62 [1.54, 1.7] | AUROC: 0.633 | — | — | — |
| PPM000651 | PGS000005 (PRS313_ERpos) |
PSS000360| European Ancestry| 28,140 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.82 [1.77, 1.87] | AUROC: 0.6595 | — | — | — |
| PPM000650 | PGS000004 (PRS313_BC) |
PSS000360| European Ancestry| 28,140 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |Ext. |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.8 [1.75, 1.86] | AUROC: 0.6573 | — | — | — |
| PPM000649 | PGS000212 (PRS330_LumA) |
PSS000360| European Ancestry| 28,140 individuals |
PGP000088 | Zhang H et al. Nat Genet (2020) |
Reported Trait: Breast cancer intrinsic-like subtype (luminal A-like) | OR: 1.83 [1.78, 1.88] | AUROC: 0.6609 | — | — | — |
| PPM000847 | PGS000317 (PRS180) |
PSS000406| Hispanic or Latin American Ancestry| 12,280 individuals |
PGP000094 | Shieh Y et al. J Natl Cancer Inst (2020) |
Reported Trait: Breast cancer | OR: 1.7 [1.63, 1.78] | — | — | — | — |
| PPM001646 | PGS000004 (PRS313_BC) |
PSS000854| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |Ext. |
Reported Trait: Incident breast cancer | — | AUROC: 0.628 [0.62, 0.637] | — | Genotyping array | Missing 25 variants (8%) based on availability of variants in the cohort |
| PPM001647 | PGS000004 (PRS313_BC) |
PSS000854| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |Ext. |
Reported Trait: Incident breast cancer | — | AUROC: 0.633 [0.624, 0.641] | — | family history of cancer (in first-degree relatives), genotyping array | Missing 25 variants (8%) based on availability of variants in the cohort |
| PPM001947 | PGS000005 (PRS313_ERpos) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in males | OR: 1.55 [1.45, 1.66] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 4.01 [3.17, 5.06] | — | — |
| PPM001948 | PGS000005 (PRS313_ERpos) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in females | OR: 1.5 [1.41, 1.6] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 3.26 [2.64, 4.03] | — | — |
| PPM001949 | PGS000006 (PRS313_ERneg) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in males | OR: 1.37 [1.29, 1.47] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.39 [1.93, 2.96] | — | — |
| PPM001950 | PGS000006 (PRS313_ERneg) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in females | OR: 1.38 [1.29, 1.47] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [2.05, 3.07] | — | — |
| PPM001945 | PGS000004 (PRS313_BC) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in males | OR: 1.55 [1.45, 1.66] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 3.86 [3.07, 4.87] | — | — |
| PPM001946 | PGS000004 (PRS313_BC) |
PSS000974| European Ancestry| 5,714 individuals |
PGP000167 | Maguire S et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer in females | OR: 1.51 [1.42, 1.61] | — | Odds Ratio (OR, top 20% vs. bottom 20%): 3.38 [2.74, 4.18] | — | — |
| PPM001958 | PGS000004 (PRS313_BC) |
PSS000979| Multi-ancestry (including European)| 19,264 individuals |
PGP000171 | Fahed AC et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer in carriers of a hereditary breast and ovarian cancer variant | OR: 1.44 [1.19, 1.74] | — | Odds Ratio (OR, top 20% vs bottom 20%): 3.04 [1.61, 5.73] | Age, PCs (1-4) | — |
| PPM001959 | PGS000004 (PRS313_BC) |
PSS000979| Multi-ancestry (including European)| 19,264 individuals |
PGP000171 | Fahed AC et al. Nat Commun (2020) |Ext. |
Reported Trait: Breast cancer in non-carriers of a hereditary breast and ovarian cancer variant | OR: 1.57 [1.49, 1.65] | — | — | Age, PCs (1-4) | — |
| PPM001960 | PGS000004 (PRS313_BC) |
PSS000980| Multi-ancestry (including European)| 26,595 individuals |
PGP000171 | Fahed AC et al. Nat Commun (2020) |Ext. |
Reported Trait: Prevalent breast cancer | OR: 1.61 [1.52, 1.7] | — | — | Age, PCs (1-4) | — |
| PPM005169 | PGS000007 (PRS3820_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.59 [0.58, 0.6] | R²: 0.021 | — | — |
| PPM001999 | PGS000004 (PRS313_BC) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.27 [1.23, 1.31] | — | Odds Ratio (OR, top 10% vs. middle 20%): 1.54 [1.38, 1.72] | Age, study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002000 | PGS000004 (PRS313_BC) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.571 [0.562, 0.579] | — | Study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002001 | PGS000005 (PRS313_ERpos) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Estrogen-receptor positive breast cancer | OR: 1.37 [1.32, 1.43] | — | Odds Ratio (OR, top 10% vs. middle 20%): 1.85 [1.61, 2.13] | Age, study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002002 | PGS000005 (PRS313_ERpos) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Estrogen-receptor positive breast cancer | — | AUROC: 0.588 [0.577, 0.599] | — | Study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002003 | PGS000006 (PRS313_ERneg) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Estrogen-receptor negative breast cancer | OR: 1.21 [1.15, 1.27] | — | Odds Ratio (OR, top 10% vs. middle 20%): 1.47 [1.25, 1.74] | Age, study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002004 | PGS000006 (PRS313_ERneg) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Estrogen-receptor negative breast cancer | — | AUROC: 0.562 [0.551, 0.573] | — | Study, PCs(1-10) | Only 224 of the original 313 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies. |
| PPM002005 | PGS000773 (PRS179_BC) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Breast cancer | OR: 1.26 [1.22, 1.3] | — | — | Age, study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002006 | PGS000773 (PRS179_BC) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Breast cancer | — | AUROC: 0.568 [0.56, 0.576] | — | Study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002007 | PGS000774 (PRS179_ERpos) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Estrogen-receptor positive breast cancer | OR: 1.33 [1.27, 1.38] | — | — | Age, study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002008 | PGS000774 (PRS179_ERpos) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Estrogen-receptor positive breast cancer | — | AUROC: 0.576 [0.566, 0.585] | — | Study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002009 | PGS000775 (PRS179_ERneg) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Estrogen-receptor negative breast cancer | OR: 1.31 [1.24, 1.37] | — | — | Age, study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002010 | PGS000775 (PRS179_ERneg) |
PSS000995| Multi-ancestry (excluding European)| 19,434 individuals |
PGP000179 | Du Z et al. J Natl Cancer Inst (2021) |
Reported Trait: Estrogen-receptor negative breast cancer | — | AUROC: 0.578 [0.564, 0.591] | — | Study, PCs(1-10) | Only 163 of the original 179 SNPs were avaialble in all consortia (imputation score r^2 < 0.8).For missing variants (not genotyped or imputed) in one study, each individual in that study was assigned the expected dosage derived from the remainder of studies |
| PPM002152 | PGS000001 (PRS77_BC) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers 40 years of age or below | HR: 1.43 [1.04, 1.97] | — | — | Year of birth, counselling center of origin | Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8. |
| PPM002156 | PGS000045 (BCPRS_Overall) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers | HR: 1.9 [1.32, 2.75] | — | — | Year of birth, counselling center of origin, PRS*c.1100delC carrier status | Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8. |
| PPM002054 | PGS000783 (CC_Breast_IV) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident breast cancer | HR: 1.52 [1.47, 1.56] | AUROC: 0.637 C-index: 0.635 (0.004) |
R²: 0.146 | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, (Body mass index)*(menopausal status) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM002038 | PGS000072 (CC_Breast) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident breast cancer | HR: 1.52 [1.47, 1.56] | AUROC: 0.637 C-index: 632.0 (0.005) |
— | Age at assessment, family history of breast cancer, genotyping array, PCs(1-15), parity( ≥1 live birth vs. none), age at menarche, body mass index, menopausal status (pre-menopausal vs. post-menopausal vs. unknown or hysterectomy), ever used hormone replacement therapy, oral contraceptive use, alcool intake, body mass index*menopausal status | Only 162 of the original 187 SNPs used based on those that reached p<5e-8 in the BCAC meta-analysis. C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM002070 | PGS000783 (CC_Breast_IV) |
PSS001011| European Ancestry| 216,273 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident breast cancer | — | AUROC: 0.626 C-index: 0.62 (0.005) |
R²: 0.122 | Age, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM002150 | PGS000001 (PRS77_BC) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers | HR: 1.71 [1.36, 2.15] | — | — | Year of birth, counselling center of origin | Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8. |
| PPM002151 | PGS000001 (PRS77_BC) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers | HR: 2.29 [1.56, 3.38] | — | — | Year of birth, counselling center of origin, PRS*c.1100delC carrier status | Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8. |
| PPM002153 | PGS000001 (PRS77_BC) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers between 41 and 50 years of age | HR: 2.32 [1.69, 3.2] | — | — | Year of birth, counselling center of origin | Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8. |
| PPM002154 | PGS000001 (PRS77_BC) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers between 51 and 60 years of age | HR: 1.59 [1.07, 2.35] | — | — | Year of birth, counselling center of origin | Only 70 of the original 77 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 70 SNPs used, 7 were proxies R^2>0.8. |
| PPM002155 | PGS000045 (BCPRS_Overall) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers | HR: 1.71 [1.37, 2.13] | — | — | Year of birth, counselling center of origin | Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8. |
| PPM002157 | PGS000045 (BCPRS_Overall) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers 40 years of age or below | HR: 1.59 [1.2, 2.11] | — | — | Year of birth, counselling center of origin | Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8. |
| PPM002158 | PGS000045 (BCPRS_Overall) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers between 41 and 50 years of age | HR: 2.07 [1.53, 2.82] | — | — | Year of birth, counselling center of origin | Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8. |
| PPM002159 | PGS000045 (BCPRS_Overall) |
PSS001054| European Ancestry| 760 individuals |
PGP000198 | Borde J et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Breast cancer in CHEK2 mutation carriers between 51 and 60 years of age | HR: 1.56 [1.05, 2.31] | — | — | Year of birth, counselling center of origin | Only 81 of the original 88 SNPs were used due to a call rate below 0.95 or significant association with c.1100delC carrier status. Of the 81 SNPs used, 7 were proxies R^2>0.8. |
| PPM005170 | PGS000015 (GPS_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.61 [0.6, 0.62] | R²: 0.017 | — | — |
| PPM002456 | PGS000873 (SNP143) |
PSS001111| Ancestry Not Reported| 2,073 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.12 [1.81, 2.49] | Age | — |
| PPM002458 | PGS000873 (SNP143) |
PSS001105| Ancestry Not Reported| 2,021 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor positive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.17 [1.83, 2.58] | Age | — |
| PPM002460 | PGS000873 (SNP143) |
PSS001108| Ancestry Not Reported| 1,707 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor negative breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 1.86 [1.18, 2.91] | Age | — |
| PPM002462 | PGS000873 (SNP143) |
PSS001113| Ancestry Not Reported| 1,991 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Invasive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.14 [1.79, 2.55] | Age | — |
| PPM002464 | PGS000873 (SNP143) |
PSS001112| Ancestry Not Reported| 1,750 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 2.0 [1.46, 2.75] | Age | — |
| PPM002466 | PGS000873 (SNP143) |
PSS001107| Ancestry Not Reported| 1,956 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Invasive estrogen-receptor positive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.55 [1.86, 2.7] | Age | — |
| PPM002468 | PGS000873 (SNP143) |
PSS001106| Ancestry Not Reported| 1,733 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor positive breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 1.84 [1.3, 2.6] | Age | — |
| PPM002470 | PGS000873 (SNP143) |
PSS001110| Ancestry Not Reported| 1,694 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Invasive estrogen-receptor negative breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 1.44 [0.84, 2.47] | Age | — |
| PPM002471 | PGS000873 (SNP143) |
PSS001109| Ancestry Not Reported| 1,681 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor negative breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 3.12 [1.41, 6.88] | Age | — |
| PPM005171 | PGS000004 (PRS313_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.55 [0.51, 0.58] | R²: 0.0003 | — | — |
| PPM005172 | PGS000007 (PRS3820_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.53 [0.5, 0.57] | R²: 0.0002 | — | — |
| PPM005118 | PGS000004 (PRS313_BC) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA1 carriers | OR: 1.4 [1.06, 1.85] | — | — | PCs(1-3) | — |
| PPM005167 | PGS000317 (PRS180) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.2 [1.0, 1.46] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005168 | PGS000004 (PRS313_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.6 [0.59, 0.61] | R²: 0.025 | — | — |
| PPM005176 | PGS000317 (PRS180) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.54 [0.47, 0.62] | R²: 0.05 | — | — |
| PPM005127 | PGS000005 (PRS313_ERpos) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers | OR: 1.4 [1.07, 1.83] | AUROC: 0.6 [0.51, 0.69] | — | PCs(1-3) | — |
| PPM005128 | PGS000005 (PRS313_ERpos) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers | OR: 1.39 [1.06, 1.82] | — | — | PCs(1-3), family history of male breast cancer in first and second degree relatives | — |
| PPM005129 | PGS000005 (PRS313_ERpos) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA1 carriers | OR: 1.46 [1.09, 1.94] | — | — | PCs(1-3), family history of female breast cancer in first and second degree relatives | — |
| PPM005130 | PGS000005 (PRS313_ERpos) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers | OR: 1.33 [1.16, 1.52] | AUROC: 0.59 [0.55, 0.63] | — | PCs(1-3) | — |
| PPM005131 | PGS000005 (PRS313_ERpos) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers | OR: 1.33 [1.16, 1.53] | — | — | PCs(1-3), family history of male breast cancer in first and second degree relatives | — |
| PPM005148 | PGS000004 (PRS313_BC) |
PSS003595| European Ancestry| 6,339 individuals |
PGP000247 | Lacaze P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Incident invasive estrogen receptor postivie/progesterone receptor positive breast cancer | HR: 1.53 [1.22, 1.91] | — | — | Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment | Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3). |
| PPM005150 | PGS000004 (PRS313_BC) |
PSS003595| European Ancestry| 6,339 individuals |
PGP000247 | Lacaze P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Diagnosis of prevalent invasive breast cancer before the age of 50 | OR: 1.39 [1.08, 1.8] | — | — | Family history of breast cancer (first-degree blood relatives) | Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3). |
| PPM005151 | PGS000004 (PRS313_BC) |
PSS003595| European Ancestry| 6,339 individuals |
PGP000247 | Lacaze P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Diagnosis of prevalent invasive breast cancer at the age of 50 or over | OR: 1.47 [1.33, 1.63] | — | — | Family history of breast cancer (first-degree blood relatives) | Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3). |
| PPM005124 | PGS000006 (PRS313_ERneg) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers | OR: 1.23 [1.07, 1.41] | — | — | PCs(1-3) | — |
| PPM005125 | PGS000006 (PRS313_ERneg) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers | OR: 1.23 [1.07, 1.42] | — | — | PCs(1-3), family history of male breast cancer in first and second degree relatives | — |
| PPM005159 | PGS000004 (PRS313_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.4 [1.35, 1.45] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005160 | PGS000007 (PRS3820_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.36 [1.31, 1.41] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005161 | PGS000015 (GPS_BC) |
PSS003599| European Ancestry| 33,954 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.46 [1.41, 1.51] | — | Odds Ratio (OR, top 1% vs middle 20%): 2.48 [1.89, 3.25] | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005162 | PGS000004 (PRS313_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.26 [1.1, 1.44] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005163 | PGS000007 (PRS3820_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.21 [1.06, 1.39] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005164 | PGS000015 (GPS_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.24 [1.08, 1.43] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005165 | PGS000004 (PRS313_BC) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.3 [1.08, 1.57] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005166 | PGS000015 (GPS_BC) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | OR: 1.35 [1.11, 1.64] | — | — | Age, family history, study site, 3 ancestry-specific PCs | — |
| PPM005173 | PGS000015 (GPS_BC) |
PSS003598| African Ancestry| 3,801 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.55 [0.52, 0.59] | R²: 0.0004 | — | — |
| PPM005174 | PGS000004 (PRS313_BC) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.55 [0.5, 0.6] | R²: 0.0008 | — | — |
| PPM005175 | PGS000015 (GPS_BC) |
PSS003600| Hispanic or Latin American Ancestry| 2,196 individuals |
PGP000249 | Liu C et al. JAMA Netw Open (2021) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.56 [0.51, 0.6] | R²: 0.001 | — | — |
| PPM005119 | PGS000004 (PRS313_BC) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA1 carriers | OR: 1.39 [1.05, 1.84] | — | — | PCs(1-3), family history of male breast cancer in first and second degree relatives | — |
| PPM005120 | PGS000004 (PRS313_BC) |
PSS003581| European Ancestry| 413 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA1 carriers | OR: 1.44 [1.07, 1.95] | — | — | PCs(1-3), family history of female breast cancer in first and second degree relatives | — |
| PPM005121 | PGS000004 (PRS313_BC) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA2 carriers | OR: 1.32 [1.15, 1.52] | — | — | PCs(1-3) | — |
| PPM005122 | PGS000004 (PRS313_BC) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA2 carriers | OR: 1.33 [1.15, 1.52] | — | — | PCs(1-3), family history of male breast cancer in first and second degree relatives | — |
| PPM005123 | PGS000004 (PRS313_BC) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male breast cancer in BRCA2 carriers | OR: 1.36 [1.18, 1.57] | — | — | PCs(1-3), family history of female breast cancer in first and second degree relatives | — |
| PPM005126 | PGS000006 (PRS313_ERneg) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor negative breast cancer in BRCA2 carriers | OR: 1.25 [1.09, 1.45] | — | — | PCs(1-3), family history of female breast cancer in first and second degree relatives | — |
| PPM005132 | PGS000005 (PRS313_ERpos) |
PSS003582| European Ancestry| 1,177 individuals |
PGP000245 | Barnes DR et al. J Natl Cancer Inst (2021) |Ext. |
Reported Trait: Male estrogen receptor positive breast cancer in BRCA2 carriers | OR: 1.36 [1.18, 1.57] | — | — | PCs(1-3), family history of female breast cancer in first and second degree relatives | — |
| PPM005147 | PGS000004 (PRS313_BC) |
PSS003595| European Ancestry| 6,339 individuals |
PGP000247 | Lacaze P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Incident invasive breast cancer | HR: 1.43 [1.18, 1.73] | C-index: 0.65 [0.59, 0.71] | Hazard Ratio (HR, top 20% vs bottom 20%): 2.16 [1.21, 3.86] | Family history of breast cancer (first-degree blood relatives), treatment (asprin/placebo), age at enrolment, number of children, alcohol use, body mass index at enrolment, use of hormone replacement therapy at enrolment | Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3). |
| PPM005149 | PGS000004 (PRS313_BC) |
PSS003595| European Ancestry| 6,339 individuals |
PGP000247 | Lacaze P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Prevalent invasive breast cancer | OR: 1.47 [1.34, 1.61] | AUROC: 0.62 [0.59, 0.65] | Odds Ratio (OR, top 20% vs bottom 20%): 3.16 [2.26, 4.49] | Family history of breast cancer (first-degree blood relatives), pathogenic variants in breast cancer-associated genes | Only 271 SNPs from PGS000004 were utilised. 42 SNPs were not included due to low imputation quality scores (r^2 < 0.3). |
| PPM009262 | PGS001778 (PRS15_BC) |
PSS007670| European Ancestry| 1,780 individuals |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Reported Trait: Breast cancer | OR: 1.66 [1.25, 2.2] | AUROC: 0.548 | — | Age | — |
| PPM009264 | PGS001778 (PRS15_BC) |
PSS007670| European Ancestry| 1,780 individuals |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Reported Trait: Breast cancer | OR: 1.57 [1.18, 2.08] | AUROC: 0.578 | — | Age, family history | — |
| PPM009261 | PGS001778 (PRS15_BC) |
PSS007670| European Ancestry| 1,780 individuals |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Reported Trait: Breast cancer | OR: 1.66 [1.25, 2.19] | AUROC: 0.547 [0.52, 0.57] | — | — | — |
| PPM009263 | PGS001778 (PRS15_BC) |
PSS007670| European Ancestry| 1,780 individuals |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Reported Trait: Breast cancer | OR: 1.56 [1.18, 2.08] | AUROC: 0.578 | — | Family history | — |
| PPM009265 | PGS001778 (PRS15_BC) |
PSS007670| European Ancestry| 1,780 individuals |
PGP000259 | Yiangou K et al. Cancers (Basel) (2021) |
Reported Trait: Breast cancer | — | AUROC: 0.6975 [0.673, 0.722] | Odds Ratio (OR, top 10% vs middle10%): 4.58 [2.88, 7.4] | Age at interview, menopausal status, age at menarche, age at first full-term pregnancy(1-4), parous, breast feeding, smoking status, body mass index, height, hormone-replacement therapy ever use, family history | — |
| PPM009166 | PGS001336 (GBE_cancer1002) |
PSS007616| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.79293 [0.76728, 0.81858] | R²: 0.15047 Incremental AUROC (full-covars): 0.01474 PGS R2 (no covariates): 0.00598 PGS AUROC (no covariates): 0.56918 [0.51783, 0.62054] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009167 | PGS001336 (GBE_cancer1002) |
PSS007617| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.7602 [0.71475, 0.80565] | R²: 0.14344 Incremental AUROC (full-covars): 0.01509 PGS R2 (no covariates): 0.01507 PGS AUROC (no covariates): 0.59411 [0.51563, 0.67258] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009168 | PGS001336 (GBE_cancer1002) |
PSS007618| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.80561 [0.79545, 0.81577] | R²: 0.18447 Incremental AUROC (full-covars): 0.01345 PGS R2 (no covariates): 0.01264 PGS AUROC (no covariates): 0.58544 [0.56669, 0.6042] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009169 | PGS001336 (GBE_cancer1002) |
PSS007619| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.83564 [0.81289, 0.85838] | R²: 0.18535 Incremental AUROC (full-covars): 0.00869 PGS R2 (no covariates): 0.00739 PGS AUROC (no covariates): 0.5725 [0.52745, 0.61755] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009170 | PGS001336 (GBE_cancer1002) |
PSS007620| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Breast cancer | — | AUROC: 0.80961 [0.80348, 0.81573] | R²: 0.1894 Incremental AUROC (full-covars): 0.02139 PGS R2 (no covariates): 0.01602 PGS AUROC (no covariates): 0.59627 [0.58498, 0.60756] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009338 | PGS001804 (portability-PLR_174.1) |
PSS009274| European Ancestry| 10,197 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.1101 [0.0908, 0.1292] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009339 | PGS001804 (portability-PLR_174.1) |
PSS009048| European Ancestry| 2,440 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0843 [0.0446, 0.1237] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009340 | PGS001804 (portability-PLR_174.1) |
PSS008602| European Ancestry| 3,484 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.1125 [0.0795, 0.1453] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009343 | PGS001804 (portability-PLR_174.1) |
PSS007944| East Asian Ancestry| 1,143 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0983 [0.0401, 0.1559] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009344 | PGS001804 (portability-PLR_174.1) |
PSS007726| African Ancestry| 1,482 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0416 [-0.0097, 0.0927] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009345 | PGS001804 (portability-PLR_174.1) |
PSS008828| African Ancestry| 2,035 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0889 [0.0454, 0.132] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010994 | PGS002015 (portability-ldpred2_174.1) |
PSS009274| European Ancestry| 10,197 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.1132 [0.094, 0.1324] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010995 | PGS002015 (portability-ldpred2_174.1) |
PSS009048| European Ancestry| 2,440 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0807 [0.041, 0.1201] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010996 | PGS002015 (portability-ldpred2_174.1) |
PSS008602| European Ancestry| 3,484 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.1091 [0.076, 0.1419] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010997 | PGS002015 (portability-ldpred2_174.1) |
PSS008380| Greater Middle Eastern Ancestry| 467 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0976 [0.005, 0.1885] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010998 | PGS002015 (portability-ldpred2_174.1) |
PSS008156| South Asian Ancestry| 2,782 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0798 [0.0426, 0.1167] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010999 | PGS002015 (portability-ldpred2_174.1) |
PSS007944| East Asian Ancestry| 1,143 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.1146 [0.0565, 0.1719] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011000 | PGS002015 (portability-ldpred2_174.1) |
PSS007726| African Ancestry| 1,482 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0482 [-0.0031, 0.0992] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011001 | PGS002015 (portability-ldpred2_174.1) |
PSS008828| African Ancestry| 2,035 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0842 [0.0407, 0.1274] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009341 | PGS001804 (portability-PLR_174.1) |
PSS008380| Greater Middle Eastern Ancestry| 467 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0772 [-0.0155, 0.1687] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009342 | PGS001804 (portability-PLR_174.1) |
PSS008156| South Asian Ancestry| 2,782 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Breast cancer [female] | — | — | Partial Correlation (partial-r): 0.0673 [0.0301, 0.1044] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM012734 | PGS002242 (ldpred_breastcancer) |
PSS009523| European Ancestry| 258,402 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.48 [1.45, 1.51] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012738 | PGS002242 (ldpred_breastcancer) |
PSS009519| European Ancestry| 110,597 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.45 [1.37, 1.53] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012742 | PGS002242 (ldpred_breastcancer) |
PSS009515| East Asian Ancestry| 178,726 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.25 [1.21, 1.28] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012746 | PGS002242 (ldpred_breastcancer) |
PSS009527| European Ancestry| 69,422 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.5 [1.43, 1.58] | — | — | birth year, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012750 | PGS002242 (ldpred_breastcancer) |
PSS009535| European Ancestry| 25,696 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.45 [1.38, 1.54] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012754 | PGS002242 (ldpred_breastcancer) |
PSS009531| African Ancestry| 1,535 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 0.9 [0.69, 1.17] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012758 | PGS002242 (ldpred_breastcancer) |
PSS009543| European Ancestry| 343,676 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.5 [1.47, 1.53] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012763 | PGS002242 (ldpred_breastcancer) |
PSS009539| African Ancestry| 7,618 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.12 [0.93, 1.35] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012768 | PGS002242 (ldpred_breastcancer) |
PSS009547| South Asian Ancestry| 7,628 individuals |
PGP000271 | Mars N et al. Cell Genom (2022) |
Reported Trait: Breast cancer | OR: 1.47 [1.23, 1.75] | — | — | age, 10 PCs (+/- dataset-specific technical covariates) | — |
| PPM012885 | PGS000004 (PRS313_BC) |
PSS009592| Ancestry Not Reported| 5,023 individuals |
PGP000292 | Saad M et al. Lancet Oncol (2022) |Ext. |
Reported Trait: Breast cancer | OR: 1.432 [1.333, 1.538] | AUROC: 0.6 [0.581, 0.62] | — | — | — |
| PPM012909 | PGS000004 (PRS313_BC) |
PSS009609| European Ancestry| 54,949 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: Incident primary breast cancer | — | AUROC: 0.631 [0.61, 0.651] | Calibration (E/O): 0.9 [0.7, 1.0] | — | — |
| PPM012910 | PGS000004 (PRS313_BC) |
PSS009610| European Ancestry| 238,663 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: Incident primary breast cancer | — | AUROC: 0.622 [0.614, 0.63] | Calibration (E/O): 1.0 [0.7, 1.3] | — | — |
| PPM012912 | PGS000004 (PRS313_BC) |
PSS009610| European Ancestry| 238,663 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: Incident primary breast cancer | — | AUROC: 0.64 [0.632, 0.647] | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012913 | PGS000004 (PRS313_BC) |
PSS009611| European Ancestry| 302,425 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.668 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012914 | PGS000004 (PRS313_BC) |
PSS009612| European Ancestry| 840,867 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.664 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012915 | PGS000004 (PRS313_BC) |
PSS009613| European Ancestry| 408,679 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.666 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM013021 | PGS002294 (PRS111) |
PSS009652| East Asian Ancestry| 1,104 individuals |
PGP000324 | Yang Y et al. JAMA Netw Open (2022) |
Reported Trait: Breast cancer | OR: 1.67 [1.46, 1.92] | AUROC: 0.639 [0.604, 0.674] | — | — | — |
| PPM012916 | PGS000004 (PRS313_BC) |
PSS009614| European Ancestry| 188,453 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.661 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012917 | PGS000004 (PRS313_BC) |
PSS009615| European Ancestry| 1,401,091 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.664 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012918 | PGS000004 (PRS313_BC) |
PSS009616| European Ancestry| 5,328,392 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: 5-year absolute risk breast cancer (>3%) | — | AUROC: 0.665 | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM012911 | PGS000004 (PRS313_BC) |
PSS009609| European Ancestry| 54,949 individuals |
PGP000297 | Hurson AN et al. Int J Epidemiol (2022) |Ext. |
Reported Trait: Incident primary breast cancer | — | AUROC: 0.64 [0.62, 0.66] | — | iCARE-Lit (Age at menarche, age at first live birth, parity, oral-contraceptive use, age at menopause, hormone-replacement-therapy use, type of hormone replacement therapy, alcohol intake, height, BMI, breast-cancer family history [i.e. presence or absence of breast cancer in at least one first-degree relative] and benign breast disease) | — |
| PPM017165 | PGS000072 (CC_Breast) |
PSS010142| European Ancestry| 1,990 individuals |
PGP000443 | Byrne S et al. Int J Epidemiol (2023) |Ext. |
Reported Trait: Post-menopausal breast cancer | HR: 1.26 [1.2, 1.32] | — | — | age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates | — |
| PPM014912 | PGS000045 (BCPRS_Overall) |
PSS009925| Ancestry Not Reported| 295 individuals |
PGP000355 | Borde J et al. BMC Cancer (2022) |Ext. |
Reported Trait: Breast cancer in BRAC1 PV carriers | OR: 1.62 [1.16, 2.31] | — | — | — | effective SNP set size of N=77 |
| PPM014913 | PGS000047 (BCPRS_ER-) |
PSS009925| Ancestry Not Reported| 295 individuals |
PGP000355 | Borde J et al. BMC Cancer (2022) |Ext. |
Reported Trait: Estrogen receptor [ER]-negative breast cancer in BRAC2 PV carriers | OR: 2.27 [1.45, 3.78] | — | — | — | effective SNP set size of N=50 |
| PPM014886 | PGS000004 (PRS313_BC) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus Mammogram Risk Scores | β: 0.061 [0.017, 0.105] | — | — | first 10 principal components | — |
| PPM014887 | PGS000004 (PRS313_BC) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus percent Mammogram Risk Scores | β: 0.06 [0.016, 0.104] | — | — | first 10 principal components | — |
| PPM014888 | PGS000004 (PRS313_BC) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Altocumulus Mammogram Risk Scores | β: 0.081 [0.037, 0.125] | — | — | first 10 principal components | — |
| PPM014889 | PGS000004 (PRS313_BC) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cirrocumulus Mammogram Risk Scores | β: 0.058 [0.016, 0.101] | — | — | first 10 principal components | — |
| PPM014890 | PGS000006 (PRS313_ERneg) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus Mammogram Risk Scores | β: 0.059 [0.015, 0.103] | — | — | first 10 principal components | — |
| PPM014892 | PGS000006 (PRS313_ERneg) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Altocumulus Mammogram Risk Scores | β: 0.068 [0.024, 0.112] | — | — | first 10 principal components | — |
| PPM014893 | PGS000006 (PRS313_ERneg) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cirrocumulus Mammogram Risk Scores | β: 0.046 [0.003, 0.089] | — | — | first 10 principal components | — |
| PPM014894 | PGS000006 (PRS313_ERneg) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus-white Mammogram Risk Scores | β: 0.045 [0.002, 0.089] | — | — | first 10 principal components | — |
| PPM014895 | PGS000005 (PRS313_ERpos) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus Mammogram Risk Scores | β: 0.056 [0.012, 0.1] | — | — | first 10 principal components | — |
| PPM014896 | PGS000005 (PRS313_ERpos) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus percent Mammogram Risk Scores | β: 0.055 [0.011, 0.099] | — | — | first 10 principal components | — |
| PPM014897 | PGS000005 (PRS313_ERpos) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Altocumulus Mammogram Risk Scores | β: 0.078 [0.034, 0.121] | — | — | first 10 principal components | — |
| PPM014898 | PGS000005 (PRS313_ERpos) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cirrocumulus Mammogram Risk Scores | β: 0.056 [0.014, 0.099] | — | — | first 10 principal components | — |
| PPM014891 | PGS000006 (PRS313_ERneg) |
PSS009919| Ancestry Not Reported| 2,559 individuals |
PGP000351 | Li S et al. Cancers (Basel) (2022) |Ext. |
Reported Trait: Cumulus percent Mammogram Risk Scores | β: 0.065 [0.021, 0.109] | — | — | first 10 principal components | — |
| PPM015517 | PGS000007 (PRS3820_BC) |
PSS009971| Multi-ancestry (including European)| 36,422 individuals |
PGP000381 | Hao L et al. Nat Med (2022) |Ext. |
Reported Trait: Breast cancer | OR: 2.38 [2.07, 2.73] | — | — | 4 genetic PCs | — |
| PPM015579 | PGS000004 (PRS313_BC) |
PSS009990| Multi-ancestry (including European)| 207,510 individuals |
PGP000389 | Giardiello D et al. Breast Cancer Res (2022) |Ext. |
Reported Trait: Contralateral breast cancer | — | — | Subdistributional hazard ratio (sHR, 75th vs. 25th quartile): 1.35 [1.31, 1.39] | PredictCBC-2.0A | Calculated with PredictCBC-2.0A |
| PPM016281 | PGS003397 (PRS-42ASN) |
PSS010095| East Asian Ancestry| 41,031 individuals |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Reported Trait: Occurrence of breast cancer | HR: 1.4 [1.3, 1.51] | AUROC: 0.6 [0.58, 0.62] | — | principal component | — |
| PPM016282 | PGS003398 (PRS-136EUR) |
PSS010095| East Asian Ancestry| 41,031 individuals |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Reported Trait: Occurrence of breast cancer | HR: 1.55 [1.44, 1.66] | AUROC: 0.62 [0.6, 0.64] | — | principal component | — |
| PPM016280 | PGS003396 (PRS-11ASN) |
PSS010095| East Asian Ancestry| 41,031 individuals |
PGP000415 | Jee YH et al. Int J Epidemiol (2022) |
Reported Trait: Occurrence of breast cancer | HR: 1.35 [1.25, 1.45] | AUROC: 0.58 [0.56, 0.61] | — | principal component | — |
| PPM016255 | PGS003380 (best_BRCA) |
PSS010074| European Ancestry| 154,361 individuals |
PGP000413 | Namba S et al. Cancer Res (2022) |
Reported Trait: breast cancer | — | AUROC: 0.696 | R²: 0.0555 | age, top 20 genetic principal components | — |
| PPM000129 | PGS000051 (PRS67) |
PSS000081| Multi-ancestry (including European)| 8,160 individuals |
PGP000036 | Zhang X et al. PLoS Med (2018) |
Reported Trait: Invasive breast cancer | — | AUROC: 0.678 [0.666, 0.69] | — | Rosner-Colditz BC risk model, Mammographic density (MD), Testoterone (T), estrone sulfate (E1S), prolactin (PRL) | Age-adjusted AUC |
| PPM002457 | PGS000873 (SNP143) |
PSS001111| Ancestry Not Reported| 2,073 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.06 [1.75, 2.42] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002459 | PGS000873 (SNP143) |
PSS001105| Ancestry Not Reported| 2,021 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor positive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.11 [1.78, 2.51] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002461 | PGS000873 (SNP143) |
PSS001108| Ancestry Not Reported| 1,707 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor negative breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 1.81 [1.16, 2.84] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002463 | PGS000873 (SNP143) |
PSS001113| Ancestry Not Reported| 1,991 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Invasive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.07 [1.74, 2.48] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002465 | PGS000873 (SNP143) |
PSS001112| Ancestry Not Reported| 1,750 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 1.93 [1.41, 2.65] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002469 | PGS000873 (SNP143) |
PSS001106| Ancestry Not Reported| 1,733 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor positive breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 1.77 [1.24, 2.51] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002472 | PGS000873 (SNP143) |
PSS001109| Ancestry Not Reported| 1,681 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Estrogen-receptor negative breast ductal cancer in situ | — | — | Odds Ratio (OR, per interquartile range unit change): 2.99 [1.35, 6.6] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM002467 | PGS000873 (SNP143) |
PSS001107| Ancestry Not Reported| 1,956 individuals |
PGP000216 | Brentnall AR et al. Int J Cancer (2019) |
Reported Trait: Invasive estrogen-receptor positive breast cancer | — | — | Odds Ratio (OR, per interquartile range unit change): 2.18 [1.81, 2.63] | Age, ln(Tyrer-Cuzick model 10-year risk), mammographic density | — |
| PPM017271 | PGS000004 (PRS313_BC) |
PSS010184| European Ancestry| 200,195 individuals |
PGP000455 | Spaeth EL et al. Cancer Prev Res (Phila) (2023) |Ext. |
Reported Trait: breast cancer | HR: 1.45 [1.4, 1.49] | C-index: 0.567 [0.556, 0.577] | — | — | — |
| PPM017270 | PGS000001 (PRS77_BC) |
PSS010184| European Ancestry| 200,195 individuals |
PGP000455 | Spaeth EL et al. Cancer Prev Res (Phila) (2023) |Ext. |
Reported Trait: breast cancer | HR: 1.38 [1.34, 1.42] | C-index: 0.628 [0.618, 0.638] | — | — | — |
| PPM019425 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.65454 [1.59239759, 1.71911272] β: 0.50352 [0.4652408, 0.5418083] |
AUROC: 0.63947 [0.62889119, 0.65004547] | R²: 0.0555 [0.04797205, 0.06390807] | 0 | beta = log(or)/sd_pgs |
| PPM019426 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.7112 [1.68318494, 1.73969104] β: 0.5372 [0.5206878, 0.55370753] |
AUROC: 0.64797 [0.6435976, 0.65233588] | R²: 0.06177 [0.05792732, 0.06529816] | 0 | beta = log(or)/sd_pgs |
| PPM018494 | PGS003738 (PRS136_BC) |
PSS010985| European Ancestry| 738 individuals |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Reported Trait: Breast cancer | OR: 1.4 [1.27, 1.54] | — | — | — | — |
| PPM018544 | PGS003758 (BrCa_PRS_JPHC_JPGWAS) |
PSS011015| East Asian Ancestry| 8,001 individuals |
PGP000478 | Ohbe H et al. Breast Cancer Res Treat (2022) |
Reported Trait: Incident breast cancer | — | C-index: 0.598 (0.018) | Improvement in C-index from age-only model: 0.058 Hazard ratio (HR, high vs low tertile): 2.47 [1.64, 3.7] |
age | — |
| PPM018545 | PGS003759 (BrCa_PRS_JPHC_EURGWAS) |
PSS011015| East Asian Ancestry| 8,001 individuals |
PGP000478 | Ohbe H et al. Breast Cancer Res Treat (2022) |
Reported Trait: Incident breast cancer | — | C-index: 0.586 (0.018) | Improvement in C-index from age-only model: 0.046 Hazard ratio (HR, high vs low tertile): 2.25 [1.51, 3.33] |
age | — |
| PPM018546 | PGS000004 (PRS313_BC) |
PSS011015| East Asian Ancestry| 8,001 individuals |
PGP000478 | Ohbe H et al. Breast Cancer Res Treat (2022) |Ext. |
Reported Trait: Incident breast cancer | — | C-index: 0.582 (0.018) | Improvement in C-index from age-only model: 0.042 Hazard ratio (HR, high vs low tertile): 1.89 [1.25, 2.86] |
age | — |
| PPM018697 | PGS000873 (SNP143) |
PSS011069| East Asian Ancestry| 495 individuals |
PGP000494 | Ho PJ et al. Elife (2023) |Ext. |
Reported Trait: Breast cancer | — | AUROC: 0.6 [0.58, 0.63] | Hazard ratio (HR, high vs low tertile): 2.68 [1.97, 3.66] | age at recruitment | — |
| PPM019365 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | β: 0.50696 [0.46857737, 0.54535222] OR: 1.66024 [1.59771962, 1.72521592] |
AUROC: 0.64155 [0.63100072, 0.65209011] | R²: 0.05592 [0.04878852, 0.06462078] | 0 | beta = log(or)/sd_pgs |
| PPM019366 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.77072 [1.74154078, 1.80038299] β: 0.57138 [0.55477023, 0.58799941] |
AUROC: 0.65624 [0.65188392, 0.66059213] | R²: 0.06923 [0.06509505, 0.07276728] | 0 | beta = log(or)/sd_pgs |
| PPM019367 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.60503 [1.39429381, 1.84761448] β: 0.47314 [0.33238806, 0.61389534] |
AUROC: 0.62871 [0.58989471, 0.66752285] | R²: 0.0394 [0.01850853, 0.06709891] | 0 | beta = log(or)/sd_pgs |
| PPM019368 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.74575 [1.66147743, 1.8343018] β: 0.55719 [0.50770723, 0.60666392] |
AUROC: 0.64976 [0.63666034, 0.66286316] | R²: 0.06621 [0.05482, 0.07762809] | 0 | beta = log(or)/sd_pgs |
| PPM019369 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.46589 [1.26693944, 1.69608562] β: 0.38246 [0.2366041, 0.52832302] |
AUROC: 0.60655 [0.56457528, 0.64853134] | R²: 0.02531 [0.00997384, 0.04844316] | 0 | beta = log(or)/sd_pgs |
| PPM019370 | PGS004040 (ldpred2.CV.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.80882 [1.74205374, 1.87814873] β: 0.59268 [0.55506473, 0.63028658] |
AUROC: 0.65979 [0.65003927, 0.66954015] | R²: 0.07392 [0.06512011, 0.08357077] | 0 | beta = log(or)/sd_pgs |
| PPM019371 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.50345 [1.44736806, 1.56169867] β: 0.40776 [0.36974678, 0.44577412] |
AUROC: 0.61483 [0.6041949, 0.62546154] | R²: 0.03687 [0.03036813, 0.04440322] | 0 | beta = log(or)/sd_pgs |
| PPM019372 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.5159 [1.49147674, 1.54071414] β: 0.41601 [0.39976673, 0.43224604] |
AUROC: 0.61664 [0.61218514, 0.62110289] | R²: 0.03779 [0.03485119, 0.0407422] | 0 | beta = log(or)/sd_pgs |
| PPM019373 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.41368 [1.22998344, 1.62480429] β: 0.34619 [0.20700071, 0.48538737] |
AUROC: 0.59685 [0.55878634, 0.63490483] | R²: 0.02157 [0.0084806, 0.0408865] | 0 | beta = log(or)/sd_pgs |
| PPM019374 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.51726 [1.4458611, 1.59218042] β: 0.4169 [0.36870506, 0.46510441] |
AUROC: 0.61419 [0.60043482, 0.62795106] | R²: 0.03874 [0.02972293, 0.04762759] | 0 | beta = log(or)/sd_pgs |
| PPM019375 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.36644 [1.18199147, 1.57966055] β: 0.31221 [0.1672007, 0.45720998] |
AUROC: 0.58936 [0.54856639, 0.63014506] | R²: 0.01701 [0.00515533, 0.0361295] | 0 | beta = log(or)/sd_pgs |
| PPM019376 | PGS004107 (pt_clump.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.52553 [1.47054481, 1.58257468] β: 0.42234 [0.38563295, 0.45905307] |
AUROC: 0.61809 [0.60795567, 0.62822808] | R²: 0.03875 [0.03244269, 0.04550058] | 0 | beta = log(or)/sd_pgs |
| PPM019377 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.51371 [1.45690938, 1.57273254] β: 0.41457 [0.37631733, 0.45281458] |
AUROC: 0.61677 [0.60614744, 0.62739669] | R²: 0.03765 [0.03122797, 0.04458387] | 0 | beta = log(or)/sd_pgs |
| PPM019378 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.57309 [1.54753963, 1.59906233] β: 0.45304 [0.43666633, 0.46941741] |
AUROC: 0.62593 [0.62148932, 0.63037613] | R²: 0.04421 [0.04108768, 0.04733518] | 0 | beta = log(or)/sd_pgs |
| PPM019379 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.48885 [1.29381926, 1.7132878] β: 0.39801 [0.25759851, 0.53841421] |
AUROC: 0.61392 [0.57666682, 0.65116657] | R²: 0.02805 [0.01127913, 0.04970286] | 0 | beta = log(or)/sd_pgs |
| PPM019380 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.54351 [1.46962869, 1.62111114] β: 0.43406 [0.38500977, 0.4831118] |
AUROC: 0.61643 [0.60273161, 0.63013007] | R²: 0.04054 [0.03169724, 0.04959805] | 0 | beta = log(or)/sd_pgs |
| PPM019381 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | β: 0.30458 [0.1594086, 0.44974616] OR: 1.35605 [1.17281707, 1.56791414] |
AUROC: 0.58631 [0.54480747, 0.62781198] | R²: 0.01615 [0.00465348, 0.03568609] | 0 | beta = log(or)/sd_pgs |
| PPM019382 | PGS004123 (pt_clump_nested.CV.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.58738 [1.52948202, 1.64746461] β: 0.46208 [0.42492913, 0.49923751] |
AUROC: 0.62786 [0.61789935, 0.63782848] | R²: 0.04538 [0.0390985, 0.05265595] | 0 | beta = log(or)/sd_pgs |
| PPM019383 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.68728 [1.62374245, 1.75330376] β: 0.52312 [0.48473364, 0.56150187] |
AUROC: 0.64492 [0.63436542, 0.65546756] | R²: 0.05957 [0.05207671, 0.0683119] | 0 | beta = log(or)/sd_pgs |
| PPM019384 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.79574 [1.76611997, 1.82586546] β: 0.58542 [0.56878504, 0.6020541] |
AUROC: 0.66012 [0.65578171, 0.66445565] | R²: 0.07267 [0.06845349, 0.07630969] | 0 | beta = log(or)/sd_pgs |
| PPM019385 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.65971 [1.44271166, 1.90933646] β: 0.50664 [0.36652444, 0.64675578] |
AUROC: 0.64011 [0.60165094, 0.67856339] | R²: 0.0456 [0.02415111, 0.07590576] | 0 | beta = log(or)/sd_pgs |
| PPM019386 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.77954 [1.69371921, 1.86971028] β: 0.57636 [0.52692683, 0.62578349] |
AUROC: 0.65472 [0.6415564, 0.66787483] | R²: 0.07113 [0.05912593, 0.08267581] | 0 | beta = log(or)/sd_pgs |
| PPM019387 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.54652 [1.33583678, 1.79042912] β: 0.43601 [0.28955789, 0.58245532] |
AUROC: 0.61895 [0.57716253, 0.6607321] | R²: 0.03271 [0.01452627, 0.05810203] | 0 | beta = log(or)/sd_pgs |
| PPM019388 | PGS004153 (UKBB_EnsPGS.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.82572 [1.75833364, 1.89568002] β: 0.60197 [0.56436656, 0.63957762] |
AUROC: 0.6625 [0.65279453, 0.67221102] | R²: 0.0764 [0.06786928, 0.08556093] | 0 | beta = log(or)/sd_pgs |
| PPM019389 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.60508 [1.54448557, 1.66804298] β: 0.47317 [0.43469089, 0.51165107] |
AUROC: 0.63154 [0.6209314, 0.6421403] | R²: 0.04847 [0.04130408, 0.05684615] | 0 | beta = log(or)/sd_pgs |
| PPM019390 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.71525 [1.68709681, 1.74386827] β: 0.53956 [0.52300919, 0.55610579] |
AUROC: 0.64804 [0.64364562, 0.65244004] | R²: 0.06199 [0.05814535, 0.06545043] | 0 | beta = log(or)/sd_pgs |
| PPM019391 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.53934 [1.33718466, 1.77206857] β: 0.43136 [0.2905664, 0.57214755] |
AUROC: 0.61683 [0.57775913, 0.65589892] | R²: 0.03275 [0.01407293, 0.05769946] | 0 | beta = log(or)/sd_pgs |
| PPM019392 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | β: 0.53147 [0.48220528, 0.58073623] OR: 1.70143 [1.61964223, 1.78735386] |
AUROC: 0.64271 [0.62948583, 0.65593293] | R²: 0.06062 [0.04977566, 0.07136047] | 0 | beta = log(or)/sd_pgs |
| PPM019394 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.75801 [1.6931535, 1.82535722] β: 0.56418 [0.52659276, 0.6017757] |
AUROC: 0.65329 [0.64349623, 0.66307795] | R²: 0.06676 [0.05869412, 0.07488231] | 0 | beta = log(or)/sd_pgs |
| PPM019395 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.59437 [1.53276253, 1.65844649] β: 0.46648 [0.42707168, 0.50588132] |
AUROC: 0.62805 [0.61730846, 0.63879374] | R²: 0.04474 [0.03764085, 0.05255667] | 0 | beta = log(or)/sd_pgs |
| PPM019396 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.66993 [1.64183933, 1.69850558] β: 0.51278 [0.49581716, 0.52974879] |
AUROC: 0.63827 [0.63378595, 0.64274622] | R²: 0.05278 [0.04931446, 0.05616794] | 0 | beta = log(or)/sd_pgs |
| PPM019397 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.51618 [1.31170795, 1.75251743] β: 0.41619 [0.27133007, 0.56105328] |
AUROC: 0.61353 [0.5733705, 0.65369542] | R²: 0.02871 [0.01250794, 0.05342829] | 0 | beta = log(or)/sd_pgs |
| PPM019398 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.73541 [1.65197692, 1.82304779] β: 0.55124 [0.5019727, 0.60050971] |
AUROC: 0.65009 [0.63697565, 0.66320694] | R²: 0.06532 [0.05353864, 0.07670765] | 0 | beta = log(or)/sd_pgs |
| PPM019399 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.41849 [1.2278941, 1.63866418] β: 0.34959 [0.20530059, 0.49388139] |
AUROC: 0.60107 [0.56006001, 0.6420884] | R²: 0.02154 [0.00783799, 0.0429191] | 0 | beta = log(or)/sd_pgs |
| PPM019400 | PGS004137 (sbayesr.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.75895 [1.69468766, 1.82564559] β: 0.56472 [0.52749845, 0.60193367] |
AUROC: 0.65397 [0.64416994, 0.6637611] | R²: 0.06832 [0.06011876, 0.07710225] | 0 | beta = log(or)/sd_pgs |
| PPM019401 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.66191 [1.59929671, 1.72697924] β: 0.50797 [0.46956397, 0.54637378] |
AUROC: 0.64171 [0.63118121, 0.65224553] | R²: 0.05608 [0.04909415, 0.06472665] | 0 | beta = log(or)/sd_pgs |
| PPM019402 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.77035 [1.74117276, 1.80002055] β: 0.57118 [0.55455889, 0.58779808] |
AUROC: 0.65593 [0.65157997, 0.66028305] | R²: 0.06913 [0.06491623, 0.07286341] | 0 | beta = log(or)/sd_pgs |
| PPM019403 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.61352 [1.40208165, 1.85683331] β: 0.47842 [0.33795803, 0.61887252] |
AUROC: 0.63169 [0.59299282, 0.67038513] | R²: 0.04043 [0.01973305, 0.06848248] | 0 | beta = log(or)/sd_pgs |
| PPM019404 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.74007 [1.65600677, 1.82841046] β: 0.55393 [0.50440914, 0.60344699] |
AUROC: 0.64863 [0.63550699, 0.66174475] | R²: 0.06532 [0.05411845, 0.07675006] | 0 | beta = log(or)/sd_pgs |
| PPM019405 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.44836 [1.25210644, 1.67537516] β: 0.37043 [0.22482729, 0.51603712] |
AUROC: 0.60329 [0.56051089, 0.64607018] | R²: 0.02382 [0.00880191, 0.04697128] | 0 | beta = log(or)/sd_pgs |
| PPM019406 | PGS004025 (ldpred2.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.80647 [1.73980278, 1.87569651] β: 0.59138 [0.55377176, 0.62898006] |
AUROC: 0.65976 [0.65001199, 0.66950573] | R²: 0.07359 [0.06487413, 0.08290854] | 0 | beta = log(or)/sd_pgs |
| PPM019407 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.64103 [1.57912878, 1.70535148] β: 0.49532 [0.45687329, 0.53377123] |
AUROC: 0.63737 [0.62675736, 0.64797822] | R²: 0.0532 [0.04622562, 0.06191163] | 0 | beta = log(or)/sd_pgs |
| PPM019408 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.7432 [1.71450629, 1.77238361] β: 0.55573 [0.53912516, 0.57232531] |
AUROC: 0.65242 [0.6480568, 0.65678307] | R²: 0.06545 [0.06174367, 0.06888215] | 0 | beta = log(or)/sd_pgs |
| PPM019409 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.56536 [1.35914439, 1.80285464] β: 0.44811 [0.30685538, 0.58937132] |
AUROC: 0.62314 [0.58448319, 0.66179346] | R²: 0.03515 [0.01639285, 0.06168013] | 0 | beta = log(or)/sd_pgs |
| PPM019410 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.72445 [1.64139537, 1.81169954] β: 0.54491 [0.49554672, 0.59426538] |
AUROC: 0.64679 [0.63364992, 0.65993923] | R²: 0.06355 [0.05288965, 0.07449614] | 0 | beta = log(or)/sd_pgs |
| PPM019411 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.51041 [1.305849, 1.74702266] β: 0.41238 [0.2668534, 0.557913] |
AUROC: 0.61087 [0.57033984, 0.65140365] | R²: 0.02956 [0.01317004, 0.05393655] | 0 | beta = log(or)/sd_pgs |
| PPM019412 | PGS004069 (megaprs.CV.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.78417 [1.71851145, 1.85232925] β: 0.57895 [0.54145848, 0.6164439] |
AUROC: 0.65585 [0.64609462, 0.66560523] | R²: 0.07087 [0.06226027, 0.0800237] | 0 | beta = log(or)/sd_pgs |
| PPM019413 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.61464 [1.55394223, 1.67770259] β: 0.47911 [0.44079507, 0.51742535] |
AUROC: 0.6334 [0.62282373, 0.64397359] | R²: 0.05009 [0.04317505, 0.05809181] | 0 | beta = log(or)/sd_pgs |
| PPM019414 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.72899 [1.70061022, 1.75784976] β: 0.54754 [0.53098714, 0.56409133] |
AUROC: 0.64996 [0.64560075, 0.65432486] | R²: 0.06387 [0.05988493, 0.0675063] | 0 | beta = log(or)/sd_pgs |
| PPM019415 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.58283 [1.37520299, 1.8218099] β: 0.45922 [0.31860135, 0.59983046] |
AUROC: 0.62693 [0.58820997, 0.66564469] | R²: 0.03717 [0.01784551, 0.06382176] | 0 | beta = log(or)/sd_pgs |
| PPM019416 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.7155 [1.6331199, 1.80203152] β: 0.5397 [0.49049223, 0.58891465] |
AUROC: 0.64563 [0.63247965, 0.65878399] | R²: 0.06273 [0.05191156, 0.07305575] | 0 | beta = log(or)/sd_pgs |
| PPM019417 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.42423 [1.23268451, 1.64552911] β: 0.35363 [0.20919432, 0.49806198] |
AUROC: 0.59717 [0.55485917, 0.63948019] | R²: 0.02202 [0.00748612, 0.04464707] | 0 | beta = log(or)/sd_pgs |
| PPM019418 | PGS004053 (megaprs.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.75979 [1.69513119, 1.82691975] β: 0.5652 [0.52776014, 0.60263135] |
AUROC: 0.65299 [0.64321086, 0.66276462] | R²: 0.06765 [0.05919841, 0.07667134] | 0 | beta = log(or)/sd_pgs |
| PPM019419 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011215| European Ancestry| 130,758 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | β: 0.48736 [0.44905474, 0.52567252] OR: 1.62802 [1.56683043, 1.69159609] |
AUROC: 0.63532 [0.62467241, 0.64596639] | R²: 0.05189 [0.04462939, 0.06050746] | 0 | beta = log(or)/sd_pgs |
| PPM019420 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011227| European Ancestry| 217,530 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.73797 [1.70945914, 1.76696055] β: 0.55272 [0.53617703, 0.56926087] |
AUROC: 0.65207 [0.64770258, 0.65644351] | R²: 0.06524 [0.06134318, 0.06889406] | 0 | beta = log(or)/sd_pgs |
| PPM019421 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.57454 [1.3683506, 1.81179039] β: 0.45396 [0.31360607, 0.59431552] |
AUROC: 0.62734 [0.58839198, 0.66629096] | R²: 0.0365 [0.01640351, 0.06192232] | 0 | beta = log(or)/sd_pgs |
| PPM019422 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.72094 [1.6384216, 1.80760485] β: 0.54287 [0.49373334, 0.59200268] |
AUROC: 0.64671 [0.63347915, 0.65993367] | R²: 0.06366 [0.05229169, 0.07516806] | 0 | beta = log(or)/sd_pgs |
| PPM019423 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.51133 [1.30438605, 1.7511135] β: 0.41299 [0.26573247, 0.56025187] |
AUROC: 0.61379 [0.57261519, 0.65495499] | R²: 0.029 [0.01275949, 0.05212183] | 0 | beta = log(or)/sd_pgs |
| PPM019424 | PGS004083 (prscs.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.77492 [1.70965861, 1.84266319] β: 0.57375 [0.5362937, 0.61121191] |
AUROC: 0.65535 [0.64554283, 0.66515647] | R²: 0.06966 [0.06127445, 0.07856851] | 0 | beta = log(or)/sd_pgs |
| PPM019427 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011238| South Asian Ancestry| 24,319 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.60371 [1.39434739, 1.84450091] β: 0.47232 [0.33242648, 0.61220873] |
AUROC: 0.63037 [0.59126423, 0.66947401] | R²: 0.03979 [0.01942893, 0.06698512] | 0 | beta = log(or)/sd_pgs |
| PPM019428 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011254| European Ancestry| 35,377 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.71179 [1.62971047, 1.79800083] β: 0.53754 [0.48840237, 0.5866754] |
AUROC: 0.64444 [0.6312226, 0.65766239] | R²: 0.06247 [0.05174001, 0.07360675] | 0 | beta = log(or)/sd_pgs |
| PPM019429 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.48538 [1.28422223, 1.71804972] β: 0.39567 [0.25015327, 0.54118977] |
AUROC: 0.60906 [0.56630285, 0.65182352] | R²: 0.02726 [0.01122822, 0.05190103] | 0 | beta = log(or)/sd_pgs |
| PPM019430 | PGS003999 (lassosum.auto.GCST004988.Breast_cancer) |
PSS011268| European Ancestry| 48,968 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.75341 [1.6889839, 1.82030397] β: 0.56157 [0.52412711, 0.5990035] |
AUROC: 0.6524 [0.64250552, 0.66229219] | R²: 0.06677 [0.05835915, 0.07564263] | 0 | beta = log(or)/sd_pgs |
| PPM020099 | PGS004166 (bc_1) |
PSS011296| European Ancestry| 45,334 individuals |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Reported Trait: Breast cancer | — | AUROC: 0.64831 | — | year of birth | — |
| PPM020100 | PGS004167 (bc_2) |
PSS011296| European Ancestry| 45,334 individuals |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Reported Trait: Breast cancer | — | AUROC: 0.64213 | — | year of birth | — |
| PPM020101 | PGS004168 (bc_3) |
PSS011296| European Ancestry| 45,334 individuals |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Reported Trait: Breast cancer | — | AUROC: 0.64699 | — | year of birth | — |
| PPM020102 | PGS004169 (bc_4) |
PSS011296| European Ancestry| 45,334 individuals |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Reported Trait: Breast cancer | — | AUROC: 0.64504 | — | year of birth | — |
| PPM020103 | PGS004170 (bc_5) |
PSS011296| European Ancestry| 45,334 individuals |
PGP000520 | Raben TG et al. Sci Rep (2023) |
Reported Trait: Breast cancer | — | AUROC: 0.64455 | — | year of birth | — |
| PPM020279 | PGS000004 (PRS313_BC) |
PSS011321| African Ancestry| 10,717 individuals |
PGP000537 | Luoh SW et al. Health Equity (2023) |Ext. |
Reported Trait: Incident breast cancer | — | AUROC: 0.579 [0.522, 0.636] | — | — | — |
| PPM020280 | PGS000004 (PRS313_BC) |
PSS011322| European Ancestry| 19,939 individuals |
PGP000537 | Luoh SW et al. Health Equity (2023) |Ext. |
Reported Trait: Incident breast cancer | — | AUROC: 0.622 [0.58, 0.664] | — | — | — |
| PPM020299 | PGS004242 (PRS306_breast) |
PSS011328| European Ancestry| 133,830 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Breast cancer | HR: 1.58 [1.53, 1.64] | — | — | first 10 genetic principal components | — |
| PPM020363 | PGS004295 (GenoBoost_breast_cancer_0) |
PSS011338| European Ancestry| 36,380 individuals |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.64123 | Covariate-adjusted pseudo-R2: 0.02653 AUPRC: 0.64123 |
age, sex, PC1-10 | — |
| PPM019393 | PGS003983 (dbslmm.auto.GCST004988.Breast_cancer) |
PSS011282| South Asian Ancestry| 4,350 individuals |
PGP000517 | Monti R et al. Am J Hum Genet (2024) |
Reported Trait: Breast cancer | OR: 1.467 [1.26742431, 1.69799758] β: 0.38322 [0.23698674, 0.52944966] |
AUROC: 0.60326 [0.56283686, 0.64369262] | R²: 0.02527 [0.01023305, 0.04785722] | 0 | beta = log(or)/sd_pgs |
| PPM020366 | PGS004298 (GenoBoost_breast_cancer_3) |
PSS011338| European Ancestry| 36,380 individuals |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.64169 | Covariate-adjusted pseudo-R2: 0.02726 AUPRC: 0.64169 |
age, sex, PC1-10 | — |
| PPM020367 | PGS004299 (GenoBoost_breast_cancer_4) |
PSS011338| European Ancestry| 36,380 individuals |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.63627 | Covariate-adjusted pseudo-R2: 0.02431 AUPRC: 0.63627 |
age, sex, PC1-10 | — |
| PPM020422 | PGS000004 (PRS313_BC) |
PSS011356| European Ancestry| 17,835 individuals |
PGP000553 | Mao X et al. J Natl Cancer Inst (2023) |Ext. |
Reported Trait: Incident breast cancer in women aged 40-54 years at study enrolment | HR: 1.68 [1.52, 1.84] | — | — | Age, genotyping method | — |
| PPM020423 | PGS000004 (PRS313_BC) |
PSS011356| European Ancestry| 17,835 individuals |
PGP000553 | Mao X et al. J Natl Cancer Inst (2023) |Ext. |
Reported Trait: Incident breast cancer in women aged 55-74 years at study enrolment | HR: 1.53 [1.42, 1.65] | — | — | Age, genotyping method | — |
| PPM020424 | PGS000004 (PRS313_BC) |
PSS011356| European Ancestry| 17,835 individuals |
PGP000553 | Mao X et al. J Natl Cancer Inst (2023) |Ext. |
Reported Trait: Incident breast cancer in full sisters of women aged 40-54 years at study enrolment | HR: 1.27 [1.04, 1.55] | — | — | Age, genotyping method | — |
| PPM020425 | PGS000004 (PRS313_BC) |
PSS011356| European Ancestry| 17,835 individuals |
PGP000553 | Mao X et al. J Natl Cancer Inst (2023) |Ext. |
Reported Trait: Incident breast cancer in full sisters of women aged 55-74 years at study enrolment | HR: 1.24 [1.07, 1.44] | — | — | Age, genotyping method | — |
| PPM020556 | PGS004441 (disease.breast_cancer.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: Breast cancer | OR: 1.22014 | — | — | — | — |
| PPM020626 | PGS004511 (meta.breast_cancer.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: Breast cancer | OR: 1.22647 | — | — | — | — |
| PPM020724 | PGS000004 (PRS313_BC) |
PSS011385| European Ancestry| 683 individuals |
PGP000572 | Lopes Cardozo JMN et al. J Clin Oncol (2023) |Ext. |
Reported Trait: Grade 3 tumour in females with invasive breast cancer | OR: 0.8 [0.65, 0.99] | — | — | — | Reference = grade 1 tumour |
| PPM020725 | PGS000004 (PRS313_BC) |
PSS011385| European Ancestry| 683 individuals |
PGP000572 | Lopes Cardozo JMN et al. J Clin Oncol (2023) |Ext. |
Reported Trait: ER negative status in females with invasive breast cancer | OR: 0.8 [0.65, 0.99] | — | — | — | — |
| PPM020726 | PGS000004 (PRS313_BC) |
PSS011384| Additional Asian Ancestries| 12,920 individuals |
PGP000572 | Lopes Cardozo JMN et al. J Clin Oncol (2023) |Ext. |
Reported Trait: ER negative status in females with invasive breast cancer | OR: 0.86 [0.82, 0.89] | — | — | — | — |
| PPM020727 | PGS000004 (PRS313_BC) |
PSS011385| European Ancestry| 683 individuals |
PGP000572 | Lopes Cardozo JMN et al. J Clin Oncol (2023) |Ext. |
Reported Trait: PR negative status in females with invasive breast cancer | OR: 0.84 [0.71, 1.0] | — | — | — | — |
| PPM020728 | PGS000004 (PRS313_BC) |
PSS011384| Additional Asian Ancestries| 12,920 individuals |
PGP000572 | Lopes Cardozo JMN et al. J Clin Oncol (2023) |Ext. |
Reported Trait: PR negative status in females with invasive breast cancer | OR: 0.89 [0.86, 0.94] | — | — | — | — |
| PPM020694 | PGS004579 (BRCA_PRSCS) |
PSS011365| European Ancestry| 190,879 individuals |
PGP000562 | Youssef O et al. Lab Invest (2024) |
Reported Trait: Breast cancer | OR: 1.76 [1.73, 1.79] | — | — | — | — |
| PPM020786 | PGS004611 (RORP_PRS) |
PSS011411| Multi-ancestry (including European)| 10,196 individuals |
PGP000590 | Shieh Y et al. NPJ Precis Oncol (2023) |
Reported Trait: Breast cancer-specific survival | HR: 1.13 [1.06, 1.21] | — | — | 10 PCs | — |
| PPM020873 | PGS004688 (breast_cancer) |
PSS011432| European Ancestry| 21,249 individuals |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.665 | — | — | — |
| PPM020962 | PGS004737 (breast_cancer_PRSmix_eur) |
PSS011486| European Ancestry| 5,680 individuals |
PGP000604 | Truong B et al. Cell Genom (2024) |
Reported Trait: Breast cancer | — | — | Incremental R2 (Full model versus model with only covariates): 0.038 [0.028, 0.048] | age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 | Incremental R2 (Full model versus model with only covariates) |
| PPM020963 | PGS004738 (breast_cancer_PRSmixPlus_eur) |
PSS011486| European Ancestry| 5,680 individuals |
PGP000604 | Truong B et al. Cell Genom (2024) |
Reported Trait: Breast cancer | — | — | Incremental R2 (Full model versus model with only covariates): 0.038 [0.028, 0.048] | age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 | Incremental R2 (Full model versus model with only covariates) |
| PPM021102 | PGS004865 (PRS105_BC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC2 carriers younger than 40 years | OR: 18.2 [9.36, 35.4] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA2 variant carriers vs non-carriers |
| PPM021103 | PGS004865 (PRS105_BC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among ATM carriers younger than 40 years | OR: 3.19 [2.51, 4.05] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in ATM variant carriers vs non-carriers |
| PPM021104 | PGS004865 (PRS105_BC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among CHEK2 carriers younger than 40 years | OR: 3.84 [3.12, 4.72] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CHEK2 variant carriers vs non-carriers |
| PPM021105 | PGS004865 (PRS105_BC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among PALB2 carriers younger than 40 years | OR: 5.67 [3.84, 8.38] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in PALB2 variant carriers vs non-carriers |
| PPM021106 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC1 carriers younger than 40 years | OR: 61.05 [25.31, 147.28] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA1 variant carriers vs non-carriers |
| PPM021107 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC2 carriers younger than 40 years | OR: 13.16 [4.29, 35.2] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA2 variant carriers vs non-carriers |
| PPM021108 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among ATM carriers younger than 40 years | OR: 1.78 [0.92, 3.46] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in ATM variant carriers vs non-carriers |
| PPM021109 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among CHEK2 carriers younger than 40 years | OR: 1.79 [1.02, 3.14] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CHEK2 variant carriers vs non-carriers |
| PPM021110 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among PALB2 carriers younger than 40 years | OR: 11.95 [6.41, 22.3] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in PALB2 variant carriers vs non-carriers |
| PPM021111 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BARD1 carriers younger than 40 years | OR: 4.42 [1.9, 10.3] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BARD1 variant carriers vs non-carriers |
| PPM021112 | PGS004867 (PRS105_ERnegBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRIP1 carriers younger than 40 years | OR: 2.45 [1.0, 5.97] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRIP1 variant carriers vs non-carriers |
| PPM021113 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC1 carriers younger than 40 years | OR: 15.04 [6.06, 37.34] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA1 variant carriers vs non-carriers |
| PPM021114 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC2 carriers younger than 40 years | OR: 21.24 [9.84, 45.84] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA2 variant carriers vs non-carriers |
| PPM021115 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among ATM carriers younger than 40 years | OR: 4.17 [3.06, 5.68] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in ATM variant carriers vs non-carriers |
| PPM021128 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | OR: 1.41 [1.25, 1.59] β: 0.3432 (0.0696) |
— | — | — | — |
| PPM021129 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | OR: 1.37 [1.21, 1.55] β: 0.3154 (0.0631) |
— | — | Questionnaire score, percent mammographic density | — |
| PPM021130 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.658 | — | Age, percent mammographic density, questionnaire score | — |
| PPM021131 | PGS000001 (PRS77_BC) |
PSS011535| Ancestry Not Reported| 1,336 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.687 | — | Age, mammographic percent density, questionnaire score | — |
| PPM021132 | PGS000001 (PRS77_BC) |
PSS011536| Ancestry Not Reported| 1,166 individuals |
PGP000616 | Rosner B et al. Cancer Epidemiol Biomarkers Prev (2020) |Ext. |
Reported Trait: Incident invasive breast cancer (10- year risk) | — | AUROC: 0.659 | — | Age, BIRADs for mammographic density clasification, questionnaire score | — |
| PPM021101 | PGS004865 (PRS105_BC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRAC1 carriers younger than 40 years | OR: 16.2 [8.1, 32.5] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRCA1 variant carriers vs non-carriers |
| PPM021116 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among CHEK2 carriers younger than 40 years | OR: 4.86 [3.71, 6.37] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CHEK2 variant carriers vs non-carriers |
| PPM021117 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among PALB2 carriers younger than 40 years | OR: 6.51 [4.0, 10.6] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in PALB2 variant carriers vs non-carriers |
| PPM021118 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BARD1 carriers younger than 40 years | OR: 1.94 [1.02, 3.68] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BARD1 variant carriers vs non-carriers |
| PPM021119 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among BRIP1 carriers younger than 40 years | OR: 2.73 [1.65, 4.54] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in BRIP1 variant carriers vs non-carriers |
| PPM021120 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among CDH1 carriers younger than 40 years | OR: 17.98 [3.8, 85.06] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in CDH1 variant carriers vs non-carriers |
| PPM021121 | PGS004866 (PRS105_ERposBC) |
PSS011529| European Ancestry| 52,925 individuals |
PGP000612 | Gao C et al. J Clin Oncol (2021) |
Reported Trait: Breast cancer among NF1 carriers younger than 40 years | OR: 2.34 [0.75, 7.31] | — | — | — | Odds ratio is for a 1-SD change from the median PRS in NF1 variant carriers vs non-carriers |
| PPM021136 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011557| European Ancestry| 36,886 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.63 [1.55, 1.71] | C-index: 0.63 [0.61, 0.64] | — | PCs 1-10 | — |
| PPM021137 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011556| European Ancestry| 17,370 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.48 [1.43, 1.54] | C-index: 0.63 [0.62, 0.65] | — | PCs 1-10 | — |
| PPM021138 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011554| European Ancestry| 24,387 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.63 [1.42, 1.88] | — | — | PCs 1-10 | — |
| PPM021139 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011555| European Ancestry| 7,018 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.42 [1.3, 1.55] | C-index: 0.61 [0.59, 0.64] | — | PCs 1-10 | — |
| PPM021140 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011553| European Ancestry| 230,276 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.61 [1.59, 1.64] | C-index: 0.64 [0.63, 0.64] | — | PCs 1-10 | — |
| PPM021141 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011552| European Ancestry| 130,985 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.59 [1.53, 1.65] | C-index: 0.63 [0.62, 0.64] | — | PCs 1-10 | — |
| PPM021273 | PGS004893 (overall.hybrid.prs) |
PSS011673| African Ancestry| 5,821 individuals |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Reported Trait: Breast cancer | OR: 1.34 [1.27, 1.42] | AUROC: 0.581 [0.566, 0.597] | — | age, consortium/study, and top 10 principal components | — |
| PPM021274 | PGS004894 (ERpos.prs) |
PSS011673| African Ancestry| 5,821 individuals |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Reported Trait: Estrogen receptor positive breast cancer | OR: 1.49 [1.39, 1.6] | AUROC: 0.608 [0.588, 0.627] | — | age, consortium/study, and top 10 principal components | — |
| PPM021275 | PGS004895 (ERneg.prs) |
PSS011673| African Ancestry| 5,821 individuals |
PGP000621 | Gao G et al. Hum Mol Genet (2022) |
Reported Trait: Estrogen receptor negative breast cancer | OR: 1.31 [1.21, 1.43] | AUROC: 0.576 [0.553, 0.598] | — | age, consortium/study, and top 10 principal components | — |
| PPM021285 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer | HR: 1.56 [1.4, 1.74] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021286 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women below the age of 50 | HR: 2.74 [1.72, 4.37] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021287 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women aged between 50 and 75 | HR: 1.74 [1.52, 2.0] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021288 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women above the age of 75 | HR: 1.29 [1.08, 1.55] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021289 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident invasive breast cancer | HR: 1.57 [1.4, 1.77] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021290 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident in situ breast cancer | HR: 1.43 [1.01, 2.01] | — | — | Age at inclusion in the Rotterdam Study | — |
| PPM021291 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women below the age of 60 | — | C-index: 0.632 [0.58, 0.69] | — | — | — |
| PPM021292 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women aged between the ages of 60 and 70 | — | C-index: 0.673 [0.61, 0.73] | — | — | — |
| PPM021293 | PGS000004 (PRS313_BC) |
PSS011678| European Ancestry| 6,522 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer in women aged 70 or above | — | C-index: 0.562 [0.48, 0.62] | — | — | — |
| PPM021294 | PGS000004 (PRS313_BC) |
PSS011677| European Ancestry| 4,377 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer | — | C-index: 0.636 [0.59, 0.68] | — | Age at inclusion in the Rotterdam Study | Calculated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICIEA) |
| PPM021271 | PGS004891 (TNBC_PRS25) |
PSS011672| Multi-ancestry (including European)| 9,868 individuals |
PGP000620 | Sun X et al. Cancer Res (2024) |
Reported Trait: Triple negative breast cancer | — | — | Odds ratio (OR, high vs low tertile): 1.54 [0.92, 2.59] | Age at initial pathologic diagnosis of breast cancer, pathologic stage | — |
| PPM021272 | PGS004892 (TNBC_PRS41) |
PSS011672| Multi-ancestry (including European)| 9,868 individuals |
PGP000620 | Sun X et al. Cancer Res (2024) |
Reported Trait: Triple negative breast cancer | — | — | Odds ratio (OR, high vs low tertile): 1.53 [0.92, 2.55] | Age at initial pathologic diagnosis of breast cancer, pathologic stage | — |
| PPM021295 | PGS000004 (PRS313_BC) |
PSS011677| European Ancestry| 4,377 individuals |
PGP000625 | Lakeman IMM et al. Genet Med (2020) |Ext. |
Reported Trait: Incident breast cancer | — | C-index: 0.653 [0.6, 0.7] | — | Age at inclusion in the Rotterdam Study, age at menarche, age at menopause, number of children, age at first live birth, use of oral contraception, use of hormone replacement therapy, body mass index (BMI), height, alcohol use | Calculated using the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICIEA) |
| PPM021373 | PGS000004 (PRS313_BC) |
PSS011707| European Ancestry| 110,869 individuals |
PGP000644 | Arthur RS et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Incident breast cancer in postmenopausal women | HR: 2.03 [1.91, 2.16] | — | Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.51 [2.27, 2.77] | Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, age at menopause, hormone replacement therapy use, 5 PCs, genotyping batch, lifestyle score | Only 304 of the 313 SNPs were available for analysis |
| PPM021372 | PGS000004 (PRS313_BC) |
PSS011708| European Ancestry| 35,457 individuals |
PGP000644 | Arthur RS et al. J Natl Cancer Inst (2020) |Ext. |
Reported Trait: Incident breast cancer in premenopausal women | HR: 2.14 [1.89, 2.42] | — | Hazard ratio (HR, top PRS tertile vs. bottom PRS tertile): 2.64 [2.17, 3.22] | Age at recruitment, socioeconomic status, age at menarche, parity and age at first pregnancy (combined), family history of breast cancer, history of mammograms, oral contraceptive use, BMI, 5 PCs, genotyping batch, lifestyle score | Only 304 of the 313 SNPs were available for analysis |
| PPM021270 | PGS004890 (CC-GWAS_PRS) |
PSS011672| Multi-ancestry (including European)| 9,868 individuals |
PGP000620 | Sun X et al. Cancer Res (2024) |
Reported Trait: Triple negative breast cancer compared to luminal-like breast cancer | — | — | Odds ratio (OR, high vs low tertile): 2.62 [1.44, 4.75] | Age at initial pathologic diagnosis of breast cancer, pathologic stage | — |
| PPM020364 | PGS004296 (GenoBoost_breast_cancer_1) |
PSS011338| European Ancestry| 36,380 individuals |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.64037 | Covariate-adjusted pseudo-R2: 0.02541 AUPRC: 0.64037 |
age, sex, PC1-10 | — |
| PPM020365 | PGS004297 (GenoBoost_breast_cancer_2) |
PSS011338| European Ancestry| 36,380 individuals |
PGP000546 | Ohta R et al. Nat Commun (2024) |
Reported Trait: Breast cancer | — | AUROC: 0.64119 | Covariate-adjusted pseudo-R2: 0.02635 AUPRC: 0.64119 |
age, sex, PC1-10 | — |
| PPM021134 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011559| European Ancestry| 242,571 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.67 [1.64, 1.7] | — | — | PCs 1-10 | — |
| PPM021135 | PGS004869 (INTERVENE_MegaPRS_breast_cancer) |
PSS011558| European Ancestry| 21,171 individuals |
PGP000618 | Jermy B et al. Nat Commun (2024) |
Reported Trait: Incident Breast Cancer | HR: 1.55 [1.49, 1.63] | C-index: 0.62 [0.61, 0.63] | — | PCs 1-10 | — |
| PPM022285 | PGS000004 (PRS313_BC) |
PSS011899| African Ancestry| 7,096 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |Ext. |
Reported Trait: Breast cancer | OR: 1.31 [1.24, 1.4] | AUROC: 0.58 [0.56, 0.6] | — | Age, study, genotyping array, 5 PCs | — |
| PPM022286 | PGS005105 (PRSAFR_ER+) |
PSS011901| African Ancestry| 5,844 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |
Reported Trait: ER-positive breast cancer | OR: 1.36 [1.26, 1.47] | AUROC: 0.6 [0.58, 0.63] | — | — | — |
| PPM022287 | PGS000005 (PRS313_ERpos) |
PSS011901| African Ancestry| 5,844 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |Ext. |
Reported Trait: ER-positive breast cancer | OR: 1.37 [1.27, 1.48] | AUROC: 0.59 [0.56, 0.61] | — | — | — |
| PPM022288 | PGS005106 (PRSAFR_ER−) |
PSS011900| African Ancestry| 4,814 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |
Reported Trait: ER-negative breast cancer | OR: 1.67 [1.49, 1.87] | AUROC: 0.62 [0.59, 0.66] | — | — | — |
| PPM022289 | PGS000006 (PRS313_ERneg) |
PSS011900| African Ancestry| 4,814 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |Ext. |
Reported Trait: ER-negative breast cancer | OR: 1.42 [1.27, 1.6] | AUROC: 0.6 [0.56, 0.63] | — | — | — |
| PPM022284 | PGS005104 (PRSAFR) |
PSS011899| African Ancestry| 7,096 individuals |
PGP000694 | Jia G et al. Nat Genet (2024) |
Reported Trait: Breast cancer | OR: 1.42 [1.33, 1.51] | AUROC: 0.6 [0.58, 0.62] | — | Age, study, genotyping array, 5 PCs | — |
|
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS000001 | All breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| PSS000002 | ER-negative breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| PSS000003 | ER-positive breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
| PSS011432 | — | — | [
|
— | European | — | UKB | — |
| PSS008156 | — | — | 2,782 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS000004 | Invasive breast cancer-affected | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000005 | ER-positive breast cancer cases | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000006 | ER-negative breast cancer cases | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
| PSS000007 | Incident registry-confirmed invasive breast cancers developed | — | [ ,
0.0 % Male samples |
— | European | — | UKB | Prospective Test Set (UKB) |
| PSS011899 | — | — | [ ,
0.0 % Male samples |
— | African American or Afro-Caribbean | — | AABCG | — |
| PSS011900 | — | — | [ ,
0.0 % Male samples |
— | African American or Afro-Caribbean | — | AABCG | — |
| PSS011901 | — | — | [ ,
0.0 % Male samples |
— | African American or Afro-Caribbean | — | AABCG | — |
| PSS011707 | Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS011708 | Cases are those of incident breast cancer. In UK Biobank, cancer diagnoses were ascertained through linkage to national cancer registries in England, Wales, and Scotland. Invasive breast cancer was coded using the 10th Revision of the International Classification of Diseases. Death was ascertained via linkage to death registries. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS009592 | — | — | [ ,
0.0 % Male samples |
— | Not reported | — | TCGA | — |
| PSS000014 | Breast cancer ascertainment was based on self-report in an interview with a trained nurse, ICD-9 codes (174 or 174.9) or ICD-10 codes (C50.X) in hospitalization records, or a breast cancer diagnosis reported to the national registry before the date of enrollment. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | UKB Phase 2 |
| PSS011215 | — | — | [ ,
0.0 % Male samples |
— | European | — | EB | — |
| PSS011069 | — | — | 495 individuals, 0.0 % Male samples |
Median = 53.0 years IQR = [48.0, 59.0] years |
East Asian (Chinese) |
— | SCHS | — |
| PSS011227 | C3_BREAST, ICD10: C0, ICD9: 174 | — | [ ,
0.0 % Male samples |
— | European | — | FinnGen | — |
| PSS000995 | Cases are women with breast cancer. Of the 4414 breast cancer cases, 2470 were ER-positive and 1372 were ER-negative. | — | [ ,
0.0 % Male samples |
— | African American or Afro-Caribbean | — | 10 cohorts
|
All cohorts part of African American Breast Cancer (AABC) consortium and/or The African American Breast Cancer Epidemiology and Risk (AMBER)consortium. |
| PSS000995 | Cases are women with breast cancer. Of the 3928 breast cancer cases, 1533 were ER-positive and 987 were ER-negative. | — | [ ,
0.0 % Male samples |
Mean = 47.71 years | African American or Afro-Caribbean, Sub-Saharan African, African unspecified | — | 15 cohorts
|
All cohorts part of The GAME-ON OncoArray Consortium or The GWAS of Breast Cancer in the African Diaspora Consortium (ROOT) |
| PSS000995 | Cases are women with breast cancer. Of the 899 breast cancer cases, 296 were ER-positive and 277 were ER-negative. | — | [ ,
0.0 % Male samples |
— | Sub-Saharan African | — | GBHS | — |
| PSS011238 | — | — | [ ,
0.0 % Male samples |
— | South Asian | — | G&H | — |
| PSS009609 | — | — | [ ,
0.0 % Male samples |
Range = [0.0, 50.0] years | European | — | NHS2, UKB | GS |
| PSS009610 | — | — | [ ,
0.0 % Male samples |
Range = [50.0, 100.0] years | European | — | 9 cohorts
|
GS |
| PSS009611 | — | — | 302,425 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | MCCS | — |
| PSS009612 | — | — | 840,867 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | EPIC | — |
| PSS009613 | — | — | 408,679 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | EPIC | — |
| PSS009614 | — | — | 188,453 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | KARMA | — |
| PSS009615 | — | — | 1,401,091 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | EPIC, PROCAS, UKB | — |
| PSS009616 | — | — | 5,328,392 individuals, 0.0 % Male samples |
Range = [50.0, 70.0] years | European | — | 7 cohorts
|
GS |
| PSS007726 | — | — | 1,482 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS011254 | — | — | [ ,
0.0 % Male samples |
— | European | — | HUNT | — |
| PSS000443 | National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9. | — | [ ,
0.0 % Male samples |
— | European (Finnish) |
— | FinnGen | — |
| PSS000444 | National registries were used to assess disease incidence. Follow-up ended at first-ever diagnosis of the disease of interest, death or at the end of follow-up on December 31, 2018, whichever came first. Disease endpoints are defined in Table S9. | — | [
|
— | European (Finnish) |
— | FinnGen | — |
| PSS009274 | — | — | 10,197 individuals | — | European | UK (+ Ireland) | UKB | — |
| PSS011268 | — | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS000450 | Breast cancer cases were identified through the Finnish Cancer Registry with diagnosis C50 (International Classification of Diseases for Oncology, 3rd Edition; ICD-O-3), from the drug reimbursement registry by selecting individuals with a reimbursement code for breast cancer, and from the death registry with ICD-10 C50. | — | [ ,
0.0 % Male samples |
Mean Age (At The End Of Follow-Up) = 58.5 years IQR = [45.1, 72.2] years |
European (Finnish) |
— | FinnGen | — |
| PSS009919 | — | — | 2,559 individuals, 0.0 % Male samples |
Mean = 54.0 years Sd = 8.4 years |
Not reported | — | NR | AMDTSS |
| PSS011282 | — | — | [ ,
0.0 % Male samples |
— | South Asian | — | UKB | — |
| PSS000038 | Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded. | — | [ ,
0.0 % Male samples |
— | East Asian | — | CPMCBHC | Nested case-control study from the CPMC Breast Health Cohort. |
| PSS000039 | Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded. | — | [ ,
0.0 % Male samples |
— | European | — | CPMCBHC | Nested case-control study from the CPMC Breast Health Cohort. |
| PSS000040 | Cases were ascertained by linkage to the California Cancer Registry and defined as pathologically-confirmed diagnoses of invasive breast cancers with positive/elevated ER expression on immunohistochemical staining. ER-negative cases and those with unavailable ER status were excluded. Excluded women self-identified as premenopausal, perimenopausal, or postmenopausal as a direct result of surgery or medical treatments, such as chemotherapy. Women on hormonal therapy or selective estrogen receptor modulators at the time of blood draw were also excluded. | — | [ ,
0.0 % Male samples |
— | East Asian, European, Hispanic or Latin American | — | CPMCBHC | Nested case-control study from the CPMC Breast Health Cohort. |
| PSS009925 | — | — | 295 individuals, 0.0 % Male samples |
— | Not reported | — | IARC | — |
| PSS011296 | 22,667 sibling pairs | — | 45,334 individuals | — | European | — | UKB | — |
| PSS011486 | — | — | 5,680 individuals | — | European | — | AllofUs | — |
| PSS000218 | Phenotypic information was self-reported by the individual through an online, interactive health history tool | — | [ ,
0.0 % Male samples |
— | European | — | CG | Samples are individuals whose healthcare provider had ordered a Color Genomics multi-gene panel test |
| PSS008828 | — | — | 2,035 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS000480 | Women (European Ancestry) diagnosed with unilateral breast cancer | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 8 cohorts
|
— |
| PSS000481 | Women (Asian Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer. | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 8 cohorts
|
— |
| PSS000482 | Women (European Ancestry) diagnosed with unilateral breast cancer or CBC. CBC was defined as breast cancer (in situ or invasive) in the contralateral breast irrespective of the time since the first breast cancer. | — | [ ,
0.0 % Male samples |
— | European | — | 63 cohorts
|
— |
| PSS000483 | Women (European Ancestry) diagnosed with unilateral breast cancer | — | [ ,
0.0 % Male samples |
— | European | — | 63 cohorts
|
— |
| PSS000484 | Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. | Median = 8.4 years | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 42 cohorts
|
— |
| PSS000485 | Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. | Median = 8.4 years | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 42 cohorts
|
— |
| PSS000486 | Women (European Ancestry) diagnosed with unilateral breast cancer or metachronous contralateral breast cancer (CBC). Metachronous contralateral breast cancer was defined as breast cancer in the contralateral breast (in situ or invasive) diagnosed at least 3 months after the first breast cancer. | Median = 8.4 years | [ ,
0.0 % Male samples |
Median (Age At Diagnosis) = 56.0 years | European | — | 42 cohorts
|
— |
| PSS000854 | Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Breast cancer=(ICD-9 = 174 or ICD-10 = C50). | Median = 5.8 years | [ ,
46.5 % Male samples |
— | European | — | UKB | — |
| PSS009652 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | NR | — |
| PSS010074 | C50 | — | [
|
— | European (British) |
— | UKB | Controls were samples without any cancer diagnosis or self-reported cancer |
| PSS000491 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000492 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000493 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MYBRCA, SGBCC | — |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MYBRCA, SGBCC | — |
| PSS000494 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MYBRCA, SGBCC | — |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MYBRCA, SGBCC | — |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MYBRCA, SGBCC | — |
| PSS010095 | — | — | 41,031 individuals, 0.0 % Male samples |
— | East Asian (Korean) |
— | KCPS | KPCS-II |
| PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MYBRCA, SGBCC | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MYBRCA, SGBCC | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MYBRCA, SGBCC | — |
| PSS000497 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000498 | — | — | [
|
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000499 | — | — | [
|
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
| PSS000500 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | SCHS | — |
| PSS000496 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MYBRCA, SGBCC | — |
| PSS001011 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS011321 | — | — | 10,717 individuals, 0.0 % Male samples |
— | African American or Afro-Caribbean (non-Hispanic African) |
— | MVP | Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years |
| PSS000070 | BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
0.0 % Male samples |
— | European | Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry | CIMBA | Median censoring age (cases) = 40 |
| PSS000071 | BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. | — | [ ,
0.0 % Male samples |
— | European | Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry | CIMBA | Median censoring age (cases) = 43 |
| PSS008380 | — | — | 467 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS011322 | — | — | 19,939 individuals, 0.0 % Male samples |
— | European | — | MVP | Full combined ancestry cohort: median age = 49 years, median follow-up time = 3.9 years |
| PSS000549 | PheCode:174.1; ICD9CM:174.0, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233.0, V10.3; ICD10CM:C50, C50.0, C50.01, C50.011, C50.012, C50.019, C50.02, C50.021, C50.022, C50.029, C50.1, C50.11, C50.111, C50.112, C50.119, C50.12, C50.121, C50.122, C50.129, C50.2, C50.21, C50.211, C50.212, C50.219, C50.22, C50.221, C50.222, C50.229, C50.3, C50.31, C50.311, C50.312, C50.319, C50.32, C50.321, C50.322, C50.329, C50.4, C50.41, C50.411, C50.412, C50.419, C50.42, C50.421, C50.422, C50.429, C50.5, C50.51, C50.511, C50.512, C50.519, C50.52, C50.521, C50.522, C50.529, C50.6, C50.61, C50.611, C50.612, C50.619, C50.62, C50.621, C50.622, C50.629, C50.8, C50.81, C50.811, C50.812, C50.819, C50.82, C50.821, C50.822, C50.829, C50.9, C50.91, C50.911, C50.912, C50.919, C50.92, C50.921, C50.922, C50.929, D05, D05.0, D05.00, D05.01, D05.02, D05.1, D05.10, D05.11, D05.12, D05.8, D05.80, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92 | — | [
|
— | European | — | MGI | — |
| PSS000074 | Breast and prostate cancer cases were defined on the basis of age at diagnosis, whichever occurred first. If breast and prostate cancer occurred at the same time, individuals were treated as patients with breast cancer. | — | [ ,
100.0 % Male samples |
— | European | Self-reported European ancestry | 37 cohorts
|
— |
| PSS000078 | — | — | [ ,
0.0 % Male samples |
— | East Asian | — | 11 cohorts
|
— |
| PSS000079 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | SGWAS | SGWAS (Stage 1). Smaller set of the larger test set from this study. |
| PSS000080 | Questionnaires were mailed to women biennially to collect information on breast cancer risk factors, including age at menarche, age at first birth, parity, family history of breast cancer, height, weight, physical activity, menopausal status, age at menopause, and HT use. Incident breast cancer cases up to 1 June 2010 were also identified through biennial questionnaires. Diagnoses were confirmed with the participants (or next of kin), and permission was obtained to collect relevant medical or pathology reports. Analysis was restricted to invasive breast cancer. | Mean = 26.54 years | [ ,
0.0 % Male samples |
Mean = 53.7 years Sd = 8.0 years Range = [34.0, 70.0] years |
European, NR | — | NHS, NHS2 | Performance metrics are reported for the "All women" results of Table 2 |
| PSS000081 | Questionnaires were mailed to women biennially to collect information on breast cancer risk factors, including age at menarche, age at first birth, parity, family history of breast cancer, height, weight, physical activity, menopausal status, age at menopause, and HT use. Incident breast cancer cases up to 1 June 2010 were also identified through biennial questionnaires. Diagnoses were confirmed with the participants (or next of kin), and permission was obtained to collect relevant medical or pathology reports. Analysis was restricted to invasive breast cancer. | Mean = 23.08 years | [ ,
0.0 % Male samples |
Mean = 53.7 years Sd = 8.0 years Range = [34.0, 70.0] years |
European, NR | — | NHS, NHS2 | Performance metrics are reported for the "All women" results of Table 3 |
| PSS000082 | A family-based cohort including 323 breast cancer cases and 262 unaffected relatives from 101 families. Unaffected relatives derived from 49 out of 101 families. | — | [ ,
0.0 % Male samples |
Mean (Cases) = 51.0 years Sd (Cases) = 11.0 years |
European | — | NR | — |
| PSS000359 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (4) HER2-enriched-like (ER- and PR-, HER2+) | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| PSS000360 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (1) luminal A-like (ER+ and/or PR+, HER2-, grade 1 & 2); | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| PSS000361 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (2) luminal B/HER2-negative-like (ER+ and/or PR+, HER2-, grade 3) | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| PSS000570 | PheCode:174.1; ICD9:233.0; ICD10:C50.0, C50.1, C50.2, C50.3, C50.4, C50.5, C50.6, C50.8, C50.9, D05.1, D05.7, D05.9, Z85.3 | — | [
|
— | European | — | UKB | — |
| PSS000363 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-). | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| PSS000362 | Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (3) luminal B-like (ER+ and/or PR+, HER2+); | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Heldout subset (20%) of the BCAC consortium data |
| PSS011328 | — | — | 133,830 individuals, 0.0 % Male samples |
— | European (British) |
— | UKB | — |
| PSS011529 | — | — | [ ,
0.0 % Male samples |
— | European | — | 11 cohorts
|
— |
| PSS011535 | Cases are individuals who were incident diagnosed with invasive breast cancer. | Mean = 10.0 years | [ ,
0.0 % Male samples |
— | Not reported | — | MMHS | — |
| PSS011536 | Cases are individuals who were diagnosed with invasive breast cancer. They were free from cancer at the beginning of the study. | Mean = 10.0 years | [ ,
0.0 % Male samples |
— | Not reported | — | NHS | — |
| PSS011338 | — | — | [ ,
0.0 % Male samples |
— | European (White British) |
— | UKB | — |
| PSS000521 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000522 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000523 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000525 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000526 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS000527 | — | — | [ ,
0.0 % Male samples |
— | European | — | 59 cohorts
|
— |
| PSS009971 | — | — | 30,716 individuals | — | European | — | MGBB | — |
| PSS000529 | Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
| PSS009971 | — | — | 1,807 individuals | — | African unspecified (Black) |
— | MGBB | — |
| PSS000531 | Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected. | — | [ ,
0.0 % Male samples |
— | European | — | 61 cohorts
|
— |
| PSS009971 | — | — | 786 individuals | — | Asian unspecified | — | MGBB | — |
| PSS009971 | — | — | 3,113 individuals | — | Other | — | MGBB | — |
| PSS011552 | — | — | [
|
— | European | — | EB | — |
| PSS007944 | — | — | 1,143 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS011554 | — | — | [
|
— | European | — | G&H | — |
| PSS011555 | — | — | [
|
— | European | — | GS:SFHS | — |
| PSS011556 | — | — | [
|
— | European | — | GEL | — |
| PSS011557 | — | — | [
|
— | European | — | HUNT | — |
| PSS011553 | — | — | [
|
— | European | — | FinnGen | — |
| PSS011559 | — | — | [
|
— | European | — | UKB | — |
| PSS011558 | — | — | [
|
— | European | — | MGBB | — |
| PSS011356 | — | — | 17,835 individuals, 0.0 % Male samples |
— | European | — | KARMA | — |
| PSS010142 | — | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS011364 | — | — | 56,192 individuals | — | European | — | UKB | — |
| PSS001054 | All women carried monoallelic protein-truncating germline variants (PTVs) in the CHEK2 gene. 557 of these were the c.1100delc mutation. Cases show individuals with breast cancer. | — | [ ,
0.0 % Male samples |
— | European | — | GC-HBOC | — |
| PSS011365 | — | — | [ ,
0.0 % Male samples |
— | European (Finnish) |
— | FinnGen | — |
| PSS009990 | — | — | 207,510 individuals, 0.0 % Male samples |
— | European, Asian unspecified | European and Asian | 20 cohorts
|
BOSOM, NKR, UBCS |
| PSS003581 | All individuals were BRCA1 carriers. BRCA1 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer. | — | [ ,
100.0 % Male samples |
— | European | — | 28 cohorts
|
Additional controls were obtained from UCHICAGO |
| PSS003582 | All individuals were BRCA2 carriers. BRCA2 pathogenic variants were categorized according to their known or predicted effect on protein function: “class I” included loss-of-function variants expected to yield unstable or no protein; “class II” included variants likely to produce stable mutant proteins. Pathology data were obtained from pathology reviews, medical, pathology or tumor registry records, or immunohistochemical staining of tissue microarrays. All cases were individuals with breast cancer. | — | [ ,
100.0 % Male samples |
— | European | — | 35 cohorts
|
Additional controls were obtained from UCHICAGO |
| PSS003595 | Cases were individuals with invasive breast cancer. Of the 585 cases, 475 were individuals with prevalent invasive breast cancer whilst 110 were individuals with incident invasive breast cancer. Incident invasive breast cancer was adjudicated by an expert panel using histopathology, metastasis imaging or other clinical evidence. Histopathology was available for 103 of the 110 individuals with incident invasive breast cancer. Of the 103 individuals, 74 had incident invasive estrogren receptor postivie/progesterone receptor positive breast cancer. Age at diagnosis of prevalent invasive breast cancer was self-reported as before or after 50 years. Of the 475 individuals with prevalent invasive breast cancer 60 had been diagnosed before the age of 50, whilst the remaining 415 had been diagnosed at age 50 or over. | Median = 4.7 years IQR = [3.65, 5.75] years |
[ ,
0.0 % Male samples |
Mean = 75.1 years | European | — | ASPREE | — |
| PSS003598 | Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes. | — | [ ,
0.0 % Male samples |
Mean = 59.6 years Sd = 16.5 years |
African unspecified | — | eMERGE | — |
| PSS003599 | Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes. | — | [ ,
0.0 % Male samples |
Mean = 66.1 years Sd = 17.7 years |
European | — | eMERGE | — |
| PSS003600 | Cases were individuals with breast cancer. Breast cancer cases were defined by at least one occurrence of the following ICD10CM female breast cancer diagnostic codes: C50.01, C50.011, C50.012, C50.019, C50.1, C50.11, C50.111, C50.112, C50.119, C50.2, C50.21, C50.211, C50.212, C50.219, C50.3, C50.31, C50.311, C50.312, C50.319, C50.4, C50.41, C50.411, C50.412, C50.419, C50.5, C50.51, C50.511, C50.512, C50.519, C50.6, C50.61, C50.611, C50.612, C50.619, C50.81, C50.811, C50.812, C50.819, C50.91, C50.911, C50.912, C50.919, D05, D05.1, D05.10, D05.11, D05.12, D05.8, D05.81, D05.82, D05.9, D05.90, D05.91, D05.92, Z85.3,Z86.000 and ICD9CM female breast cancer diagnostic codes: 174, 174, 174.1, 174.2, 174.3, 174.4, 174.5, 174.6, 174.8, 174.9, 233, V10.3. Alternatively breast cancer cases were defined by at least two occurrences (from distinct calendar days) of breast cancer history from the following ICD10CM codes: Z85.3, Z86.000 and ICD9CM code: V10.3, if she had no breast cancer diagnostic codes. | — | [ ,
0.0 % Male samples |
Mean = 59.9 years Sd = 19.4 years |
Hispanic or Latin American | — | eMERGE | — |
| PSS007616 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS007617 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS007618 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS007619 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS007620 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS011384 | — | — | 12,920 individuals, 0.0 % Male samples |
Mean = 50.9 years Sd = 11.1 years |
Asian unspecified | — | BCAC | — |
| PSS009515 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Japanese) |
— | BBJ | — |
| PSS010985 | — | — | 738 individuals | Mean = 59.35 years | European | — | TCGA | — |
| PSS011385 | — | — | 683 individuals, 0.0 % Male samples |
Mean = 54.4 years Sd = 9.2 years |
European | — | MINDACT | — |
| PSS009519 | — | — | [ ,
0.0 % Male samples |
— | European (Estonian) |
— | EB | — |
| PSS009048 | — | — | 2,440 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS009523 | — | — | [ ,
0.0 % Male samples |
— | European (Finnish) |
— | FinnGen | — |
| PSS009527 | — | — | [ ,
0.0 % Male samples |
— | European | Norwegian | HUNT | — |
| PSS009531 | — | — | [ ,
0.0 % Male samples |
— | African American or Afro-Caribbean | — | MGBB | — |
| PSS010184 | — | — | [ ,
0.0 % Male samples |
Range = [40.0, 69.0] years | European | — | UKB | — |
| PSS009535 | — | — | [ ,
0.0 % Male samples |
— | European | — | MGBB | — |
| PSS009539 | — | — | [ ,
0.0 % Male samples |
— | African unspecified | — | UKB | — |
| PSS009543 | — | — | [ ,
0.0 % Male samples |
— | European | British | UKB | — |
| PSS009547 | — | — | [ ,
0.0 % Male samples |
— | South Asian | — | UKB | — |
| PSS011015 | — | Median = 16.9 years | [ ,
0.0 % Male samples |
Mean = 53.8 years Sd = 7.8 years |
East Asian (Japanese) |
— | JPHC | — |
| PSS000974 | Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases | — | [ ,
48.07 % Male samples |
— | European | — | B58C, COH, UK-BCN-MBCS, UKBGS | Additional male breast cancer cases were recruited from the University of Leeds, the University of Cambridge. |
| PSS000273 | Primary tumor samples from TCGA | — | [ ,
0.0 % Male samples |
Mean = 60.0 years Sd = 13.0 years |
European | — | TCGA | — |
| PSS000273 | — | — | [ ,
0.0 % Male samples |
— | European | — | eMERGE | — |
| PSS000979 | Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer. | — | [ ,
0.0 % Male samples |
— | European | — | CG | — |
| PSS000979 | Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer. | — | [ ,
0.0 % Male samples |
— | African unspecified | — | CG | — |
| PSS000979 | Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer. | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | CG | — |
| PSS000979 | Cases were individuals with breast cancer based on self-reporting at the time of enrollment. Out of the total 19,264 individuals, 845 individuals were carriers of a hereditary breast and ovarian cancer (HBOC) variant. Of the 845 individuals, 174 had breast cancer. | — | [ ,
0.0 % Male samples |
— | Not reported | — | CG | — |
| PSS000980 | Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. | — | [ ,
0.0 % Male samples |
— | European | — | UKB | — |
| PSS000980 | Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. | — | [ ,
0.0 % Male samples |
— | African unspecified | — | UKB | — |
| PSS000980 | Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | UKB | — |
| PSS000980 | Cases were individuals with breast cancer based on self-reporting at the base line (Data code: 1002), primary diagnoses (ICD-10) from hospitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,C509,D05,D050,D051,D057,D059,D486,Z853), primary diagnoses (ICD-9) from hospitalization records (Data codes: 174,174,1740,1743,1744,1745,1748,1749,2330,2383,2393), secondary disgnoses (ICD-10) from hopsitalization records (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508,D05,D050,D051,D057,D 059,D486,Z853), secondary diagnoses (ICD-9) from hopsitalization records (Data codes: 174,1749,2330,V103), cancer registry data specifying the type of cancer (ICD-10) from the cancer registry (Data codes: C50,C500,C501,C502,C503,C504,C506,C508,C509,D050,D051,D057,D059,174,175,1740,1741,1742,1743,1744,1745,1746,1748,1749,2330,2383), primary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) and secondary cause of death (ICD-10) from the death registry (Data codes: C50,C500,C501,C502,C503,C504,C505,C506,C508) . Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. Of the total number of cases and controls, 115 were carriers of a pathogenic or likely pathogenic variant. | — | [ ,
0.0 % Male samples |
— | Not reported | — | UKB | — |
| PSS007670 | Cases were individuals who had been diagnosed with breast cancer. | — | [ ,
0.0 % Male samples |
— | European (Greek-Cypriot) |
— | NR | Cases and controls were obtained from the MASTOS study. |
| PSS008602 | — | — | 3,484 individuals | — | European | Italy (South Europe) | UKB | — |
| PSS011411 | — | — | 10,196 individuals, 0.0 % Male samples |
— | European, Not reported | — | Pathways, UKB | — |
| PSS011672 | The molecular intrinsic subtypes of breast cancer were determined following the strategy of Giovanni's work using the PAM50 classifier in the TCGA-BRCA. Basal-like and luminal-like breast cancer were determined by PAM50. | — | [
|
— | European | — | TCGA | — |
| PSS011672 | Triple-negative breast cancer (TNBC) was defined as ER negative, PR negative and HER2 negative. The luminal breast cancer was defined as ER and/or PR positive. | — | [
|
— | African American or Afro-Caribbean | — | AABCG | — |
| PSS011673 | — | — | [
|
Mean = 52.7 years Sd = 12.7 years |
African American or Afro-Caribbean (African American, African, and African Barbadian) |
— | AABC, AMBER, BCAC, GBHS, ROOT | — |
| PSS000406 | Women with invasive breast cancer were considered cases and those without breast cancer were considered controls. | — | [ ,
0.0 % Male samples |
Mean (Age At Diagnosis, Cases) = 57.0 years Sd (Age At Diagnosis, Cases) = 13.0 years |
Hispanic or Latin American | — | 7 cohorts
|
See supplement for cohort-specific participant recruitment/ascertainment |
| PSS000407 | Women with invasive breast cancer were considered cases and those without breast cancer were considered controls. | — | [ ,
0.0 % Male samples |
— | Hispanic or Latin American | — | CAMA, COLUMBUS, PEGEN-BC | See supplement for cohort-specific participant recruitment/ascertainment |
| PSS000408 | Women with invasive breast cancer were considered cases and those without breast cancer were considered controls. | — | [ ,
0.0 % Male samples |
— | Hispanic or Latin American | — | MEC, NC-BCFR, RPEGH, SFBCS | See supplement for cohort-specific participant recruitment/ascertainment |
| PSS001105 | Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001108 | Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype. | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001107 | Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001106 | Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER+ subtype | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001111 | Breast cancer diagnosis (invasive or ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems | — | [ ,
0.0 % Male samples |
Median = 60.0 years | Not reported | — | PROCAS | — |
| PSS001112 | Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001113 | Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001110 | Breast cancer diagnosis (invasive) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype. | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS001109 | Breast cancer diagnosis (ductal carcinoma in situ [DCIS]) was at the entry screen (10/2009–06/2015) or subsequently before January 5, 2017, and was ascertained through monthly updates from (National Health Service) Breast Screening Systems. All cases had ER- subtype. | — | [ ,
0.0 % Male samples |
— | Not reported | — | PROCAS | — |
| PSS011678 | Cases include women that developed breast cancer. Within the cases there were 290 invasive breast cancer cases and 34 in situ breast cancer cases. | Median = 12.4 years Range = [0.03, 24.43] years |
[ ,
0.0 % Male samples |
Mean = 66.05 years | European (Dutch) |
— | RS | — |
| PSS011677 | Cases include women that developed breast cancer. All women were below the age of 70. | Median = 10.0 years Range = [0.03, 10.0] years |
[ ,
0.0 % Male samples |
Mean = 59.92 years | European (Dutch) |
— | RS | — |
| PSS000111 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 26000 | — | [ ,
0.0 % Male samples |
— | European | — | GERA, UKB | — |