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 3 synonyms
  • ER+ breast cancer
  • estrogen receptor positive breast cancer
  • estrogen-receptor positive breast cancer
Mapped terms 3 mapped terms
  • DOID:0060075
  • EFO:1000649
  • MONDO:0006512

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 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

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
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
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]
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
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
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
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
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

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
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
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
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
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