Trait: estrogen-receptor positive breast cancer

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000649
Description A subtype of breast cancer that is estrogen-receptor positive [EFO: 1000649]
Trait category
Cancer
Synonyms 4 synonyms
  • ER+ breast cancer
  • estrogen receptor positive breast cancer
  • estrogen-receptor positive breast cancer
  • oestrogen receptor positive breast cancer
Mapped terms 5 mapped terms
  • DOID:0060075
  • EFO:1000649
  • MEDGEN:1843470
  • MONDO:0006512
  • UMLS:C2938924

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
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)
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
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
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
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
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
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
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
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
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

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
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 —
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] — — — —
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 —
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 —
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 —
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 —
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 —
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 —
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 —
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 —
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 — — —
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 — — —
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 — — —
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 — — —
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 — — —
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] — —
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.
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 —
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 —
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 —
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] — — —
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 —
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
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 —
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
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 —
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
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
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
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
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 —
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] — — —

Evaluated Samples

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
PSS000003 ER-positive breast cancer —
[
  • 21,365 cases
  • , 32,558 controls
]
 — European — 33 cohorts
  • ABCFS
  • ,ABCS
  • ,BBCC
  • ,BIGGS
  • ,BSUCH
  • ,CECILE
  • ,CGPS
  • ,CTS
  • ,DEMOKRITOS
  • ,ESTHER
  • ,GENICA
  • ,HMBCS
  • ,KBCP
  • ,LMBC
  • ,MARIE
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MTLGEBCS
  • ,NBHS
  • ,NorBCS
  • ,OBCS
  • ,ORIGO
  • ,OSU
  • ,PBCS
  • ,RPCI
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UKBGS
  • ,pKARMA
 iCOGS
PSS009919 — — 2,559 individuals,
0.0 % Male samples
 Mean = 54.0 years
Sd = 8.4 years		 Not reported — NR AMDTSS
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+) —
[
  • 718 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 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);  —
[
  • 7,325 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 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) —
[
  • 1,779 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 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+);  —
[
  • 1,682 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS000363 Defined intrinsic-like breast cancer subtypes based on tumor status of ER, PR, HER2 and grade: (5) triple-negative ( ER-, PR-, HER2-).  —
[
  • 2,006 cases
  • , 20,815 controls
]
,
0.0 % Male samples
 — European — 6 cohorts
  • BCAC
  • ,MMHS
  • ,PLCO
  • ,SISTER
  • ,UKBGS
  • ,pKARMA
 Heldout subset (20%) of the BCAC consortium data
PSS011529 — —
[
  • 26,798 cases
  • , 26,127 controls
]
,
0.0 % Male samples
 — European — 11 cohorts
  • CPS
  • ,CPSII
  • ,CTS
  • ,MCBCS
  • ,MEC
  • ,MMHS
  • ,NHS
  • ,SISTER
  • ,WCHS
  • ,WHI
  • ,WWHS
 —
PSS000005 ER-positive breast cancer cases —
[
  • 7,992 cases
  • , 3,436 controls
]
,
0.0 % Male samples
 — European — 10 cohorts
  • AHS
  • ,BGS
  • ,EPIC
  • ,FHRISK
  • ,KARMA
  • ,NHS
  • ,NHS2
  • ,PLCO
  • ,PROCAS
  • ,SISTER
 Prospective Test Set
PSS011901 — —
[
  • 1,413 cases
  • , 4,431 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — AABCG —
PSS000521 — —
[
  • 9,473 cases
  • , 9,462 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000522 — —
[
  • 3,263 cases
  • , 10,138 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000523 — —
[
  • 1,025 cases
  • , 12,376 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000525 — —
[
  • 6,332 cases
  • , 6,007 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000526 — —
[
  • 703 cases
  • , 8,049 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
PSS000527 — —
[
  • 2,312 cases
  • , 6,440 controls
]
,
0.0 % Male samples
 — European — 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT_TEAM
  • ,CopBCS
  • ,DEMOKRITOS
  • ,DFCI
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,Georgetown
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HUVH
  • ,ICO
  • ,IHCC
  • ,INHERIT
  • ,IOVHBOCS
  • ,IPOBCS
  • ,KUMC
  • ,LUHR
  • ,MACBRCA
  • ,MAYO
  • ,MCGILL
  • ,MDACCS
  • ,MODSQUAD
  • ,MSKCC
  • ,MUV
  • ,NC-BCFR
  • ,NCI
  • ,NICCC
  • ,NNPIO
  • ,NRG_ONCOLOGY
  • ,NSUHS
  • ,OCGN
  • ,OFBCR
  • ,OUH
  • ,PiBCS
  • ,SWE-BRCA
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
 —
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
[
  • 1,027 cases
  • , 55,041 controls
]
,
0.0 % Male samples
 Median (Age At Diagnosis) = 56.0 years European — 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
 —
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
[
  • 275 cases
  • , 55,793 controls
]
,
0.0 % Male samples
 Median (Age At Diagnosis) = 56.0 years European — 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
 —
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
[
  • 923 cases
  • , 55,145 controls
]
,
0.0 % Male samples
 Median (Age At Diagnosis) = 56.0 years European — 42 cohorts
  • ABCFS
  • ,ABCS
  • ,ABCS-F
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BCFR-PA
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CCGP
  • ,CGPS
  • ,GC-HBOC
  • ,GENICA
  • ,HCSC
  • ,HEBCS
  • ,KARBAC
  • ,KARMA
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MEC
  • ,MISS
  • ,NBCS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PROCAS
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SZBCS
  • ,UCIBCS
  • ,kConFab
  • ,pKARMA
 —
PSS000974 Cases are individuals with breast cancer. 1380 of these are male breast cancer cases and 1671 are female breast cancer cases —
[
  • 3,051 cases
  • , 2,663 controls
]
,
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. —
[
  • 4,414 cases
  • , 5,128 controls
]
,
0.0 % Male samples
 — African American or Afro-Caribbean — 10 cohorts
  • BWHS
  • ,CARE
  • ,CBCS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,PLCO
  • ,SFBCS
  • ,WCHS
  • ,WFBC
 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. —
[
  • 3,928 cases
  • , 3,435 controls
]
,
0.0 % Male samples
 Mean = 47.71 years African American or Afro-Caribbean, Sub-Saharan African, African unspecified — 15 cohorts
  • 2SISTER
  • ,BBCS
  • ,BNCS
  • ,CCPS
  • ,MEC
  • ,NBHS
  • ,NC-BCFR
  • ,NCBCS
  • ,NigBCS
  • ,PLCO
  • ,RVGBC
  • ,SCCS
  • ,SISTER
  • ,USRT
  • ,WAABCS
 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. —
[
  • 899 cases
  • , 1,630 controls
]
,
0.0 % Male samples
 — Sub-Saharan African — GBHS —
PSS011673 — —
[
  • 2,702 cases
  • , 3,119 controls
]
 Mean = 52.7 years
Sd = 12.7 years		 African American or Afro-Caribbean
(African American, African, and African Barbadian)		 — AABC, AMBER, BCAC, GBHS, ROOT —
PSS000492 — —
[
  • 10,477 cases
  • , 16,483 controls
]
,
0.0 % Male samples
 — Asian unspecified — 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
 —
PSS000496 — —
[
  • 3,627 cases
  • , 5,156 controls
]
,
0.0 % Male samples
 — East Asian
(Chinese)		 — MYBRCA, SGBCC —
PSS000496 — —
[
  • 715 cases
  • , 1,332 controls
]
,
0.0 % Male samples
 — South East Asian
(Malay)		 — MYBRCA, SGBCC —
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. —
[
  • 33 cases
  • , 380 controls
]
,
100.0 % Male samples
 — European — 28 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,GC-HBOC
  • ,GEMO
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,OCGN
  • ,OSUCCG
  • ,SWE-BRCA
  • ,UPENN
  • ,VFCTG
  • ,kConFab
 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. —
[
  • 244 cases
  • , 933 controls
]
,
100.0 % Male samples
 — European — 35 cohorts
  • BCFR
  • ,BCFR-CA
  • ,BCFR-UT
  • ,BRICOH
  • ,CNIO
  • ,CONSIT_TEAM
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSUCCG
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
 Additional controls were obtained from UCHICAGO
PSS000496 — —
[
  • 374 cases
  • , 1,018 controls
]
,
0.0 % Male samples
 — South Asian
(Indian)		 — MYBRCA, SGBCC —
PSS000499 — —
[
  • 1,022 cases
  • , 1,212 controls
]
 — 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. —
[
  • 7,797 cases
  • , 7,455 controls
]
,
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. —
[
  • 4,330 cases
  • , 3,881 controls
]
,
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. —
[
  • 277 cases
  • , 1,313 controls
]
,
100.0 % Male samples
 — European Self-reported European ancestry 37 cohorts
  • BCFR
  • ,BFBOCC
  • ,BRICOH
  • ,CBCS
  • ,CIMBA
  • ,CNIO
  • ,CONSIT
  • ,Chicago
  • ,DEMOKRITOS
  • ,DKFZ
  • ,EMBRACE
  • ,FCCC
  • ,G-FaST
  • ,GC-HBOC
  • ,GEMO
  • ,HCSC
  • ,HEBCS
  • ,HEBON
  • ,HUNBOCS
  • ,HVH
  • ,ICO
  • ,ILUH
  • ,IOVHBOCS
  • ,IPOBCS
  • ,MAYO
  • ,MSKCC
  • ,MUV
  • ,NCI
  • ,OCGN
  • ,OSU
  • ,OUH
  • ,PBCS
  • ,SWE-BRCA
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,kConFab
 —