Polygenic Score (PGS) ID: PGS000005

Predicted Trait
Reported Trait ER-positive breast cancer
Mapped Trait(s) estrogen-receptor positive breast cancer (EFO_1000649)
Released in PGS Catalog: Oct. 14, 2019
Download Score FTP directory
Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name PRS313_ERpos
Development Method
Name Hard-Thresholding Stepwise Forward Regression
Parameters p < 10^-5
Variants
Original Genome Build GRCh37
Number of Variants 313
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000002
Citation (link to publication) Mavaddat N et al. Am J Hum Genet (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
87,368 individuals (100%)
Score Development/Training
European: 100%
5,159 individuals (100%)
PGS Evaluation
European: 85.7%
Not Reported: 4.8%
African: 4.8%
Multi-ancestry (excluding European): 4.8%
  • African
21 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
—
[
  • 55,391 cases
  • , 31,977 controls
]
,
0.0 % Male samples
 European 68 cohorts
  • 2SISTER
  • ,ABCFS
  • ,ABCS
  • ,ABCTB
  • ,AOCS
  • ,BBCC
  • ,BBCS
  • ,BCEES
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BCINIS
  • ,BIGGS
  • ,BREOGAN
  • ,BSUCH
  • ,CBCS
  • ,CCGP
  • ,CECILE
  • ,CGPS
  • ,CNIO-BCS
  • ,CPSII
  • ,CTS
  • ,DIETCOMPLYF
  • ,ESTHER
  • ,GC-HBOC
  • ,GENICA
  • ,GEPARSIXTO
  • ,GESBC
  • ,HCSC
  • ,HEBCS
  • ,HMBCS
  • ,HUOCS
  • ,KARBAC
  • ,KBCP
  • ,LMBC
  • ,MABCS
  • ,MARIE
  • ,MBCSG
  • ,MCBCS
  • ,MCCS
  • ,MEC
  • ,MISS
  • ,MMHS
  • ,MSKCC
  • ,MTLGEBCS
  • ,NBCS
  • ,NBHS
  • ,NC-BCFR
  • ,OBCS
  • ,OFBCR
  • ,ORIGO
  • ,PBCS
  • ,POSH
  • ,PREFACE
  • ,RBCS
  • ,SASBAC
  • ,SBCS
  • ,SEARCH
  • ,SKKDKFZS
  • ,SMC
  • ,SUCCESSB
  • ,SUCCESSC
  • ,SZBCS
  • ,TNBCC
  • ,UCIBCS
  • ,UKOPS
  • ,WHI
  • ,pKARMA
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 4,233 cases
  • , 926 controls
]
,
0.0 % Male samples
 European 25 cohorts
  • ABCTB
  • ,BBCC
  • ,BCEES
  • ,BCINIS
  • ,BREOGAN
  • ,CBCS
  • ,CCGP
  • ,CGPS
  • ,CPSII
  • ,CTS
  • ,GENICA
  • ,HMBCS
  • ,LMBC
  • ,MCBCS
  • ,MCCS
  • ,MISS
  • ,MMHS
  • ,NBHS
  • ,ORIGO
  • ,PBCS
  • ,SEARCH
  • ,SMC
  • ,UCIBCS
  • ,WHI
  • ,pKARMA
 ER-positive breast cancer cases — — — Validation Cohort

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) 		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
PPM000006 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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] — — —

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
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
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 —
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