Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_1000650 |
Description | A subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650] | Trait category |
Cancer
|
Synonyms |
2 synonyms
|
Mapped terms |
3 mapped terms
|
Child trait(s) | triple-negative breast cancer |
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) |
---|---|---|---|---|---|---|
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 |
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 | |
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 | |
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 |
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 |
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 | |
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 |
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 |
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 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|
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 | — |
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 | — |
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 | — |
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] | — | — | — | — |
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 | — |
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 | — |
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 | — |
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 | — |
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] | — | — |
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. |
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 | — |
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 | — |
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 | — |
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 | — |
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 | — |
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 |
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 | — |
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 |
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 | — | — | — |
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 |
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 | — |
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 |
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 |
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 |
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 | — |
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 | — |
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 | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000002 | ER-negative breast cancer | — | [
|
— | European | — | 33 cohorts
|
iCOGS |
PSS009919 | — | — | 2,559 individuals, 0.0 % Male samples |
Mean = 54.0 years Sd = 8.4 years |
Not reported | — | NR | AMDTSS |
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 |
PSS011529 | — | — | [ ,
0.0 % Male samples |
— | European | — | 11 cohorts
|
— |
PSS000006 | ER-negative breast cancer cases | — | [ ,
0.0 % Male samples |
— | European | — | 10 cohorts
|
Prospective Test Set |
PSS009925 | — | — | 295 individuals, 0.0 % Male samples |
— | Not reported | — | IARC | — |
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
|
— |
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
|
— |
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
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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
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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. |
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 | — |
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 | — |
PSS000493 | — | — | [ ,
0.0 % Male samples |
— | Asian unspecified | — | 10 cohorts
|
— |
PSS000495 | — | — | [ ,
0.0 % Male samples |
— | East Asian (Chinese) |
— | MYBRCA, SGBCC | — |
PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South East Asian (Malay) |
— | MYBRCA, SGBCC | — |
PSS000495 | — | — | [ ,
0.0 % Male samples |
— | South Asian (Indian) |
— | MYBRCA, SGBCC | — |
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 |
PSS000498 | — | — | [
|
— | Asian unspecified | — | CanBCS, LAABC, NC-BCFR | — |
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 |
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
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