Trait: estrogen-receptor negative breast cancer

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000650
Description A subtype of breast cancer that is estrogen-receptor negative [EFO: 1000650]
Trait category
Cancer
Synonyms 2 synonyms
  • ER- breast cancer
  • estrogen-receptor negative breast cancer
Mapped term(s) 3 mapped terms
  • DOID:0060076
  • DOID:0060078
  • MONDO:0006513
Child trait(s) triple-negative breast cancer

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
Note: This table shows all PGS for "estrogen-receptor negative breast cancer" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000003
(PRS77_ERneg)
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
ER-negative Breast Cancer estrogen-receptor negative breast cancer 77
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000003/ScoringFiles/PGS000003.txt.gz
PGS000006
(PRS313_ERneg)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-negative Breast Cancer estrogen-receptor negative breast cancer 313
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000006/ScoringFiles/PGS000006.txt.gz
PGS000009
(PRS3820_ERneg)
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
ER-negative Breast Cancer estrogen-receptor negative breast cancer 3,820
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000009/ScoringFiles/PGS000009.txt.gz
PGS000047
(BCPRS_ER-)
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Estrogen receptor [ER]-negative breast cancer estrogen-receptor negative breast cancer 53
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000047/ScoringFiles/PGS000047.txt.gz
PGS000216
(PRS330_TN)
PGP000088 |
Zhang H et al. Nat Genet (2020)
Breast cancer intrinsic-like subtype (triple negative) triple-negative breast cancer 330
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000216/ScoringFiles/PGS000216.txt.gz
PGS000346
(PRS287_ERneg)
PGP000112 |
Ho WK et al. Nat Commun (2020)
Estrogen receptor negative breast cancer estrogen-receptor negative breast cancer 287
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000346/ScoringFiles/PGS000346.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
PPM000007 PGS000006
(PRS313_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-negative breast cancer OR: 1.45 [1.37, 1.53] AUROC: 0.601 study, genetic PCs 1-15
PPM000010 PGS000009
(PRS3820_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
Reported Trait: ER-negative breast cancer OR: 1.44 [1.36, 1.53] AUROC: 0.6 study, genetic PCs 1-15
PPM000013 PGS000003
(PRS77_ERneg)
PSS000006|
European Ancestry|
11,428 individuals
PGP000002 |
Mavaddat N et al. Am J Hum Genet (2018)
|Ext.
Reported Trait: ER-negative breast cancer OR: 1.35 [1.27, 1.43] AUROC: 0.584 study, genetic PCs 1-15
PPM000122 PGS000047
(BCPRS_ER-)
PSS000074|
European Ancestry|
1,590 individuals
PGP000034 |
Lecarpentier J et al. J Clin Oncol (2017)
|Ext.
Reported Trait: Breast cancer in male carriers of BRCA1/2 mutations OR: 1.19 [1.05, 1.35] AUROC: 0.55 [0.51, 0.59] 3 PCs of ancestry, age at breast or prostate cancer for patient-cases and age at interview for controls, mutation status of BRCA1 or BRCA2 PGS predicting Male Breast Cancer are based on association statistics from a Female Breast Cancer GWAS
PPM000110 PGS000047
(BCPRS_ER-)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.27 [1.23, 1.31] C-index: 0.581 [0.571, 0.592] Country, birth year
PPM000111 PGS000047
(BCPRS_ER-)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.15 [1.1, 1.2] C-index: 0.538 [0.523, 0.553] Country, birth year
PPM000116 PGS000003
(PRS77_ERneg)
PSS000070|
European Ancestry|
15,252 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.24 [1.21, 1.28] Country, birth year
PPM000119 PGS000003
(PRS77_ERneg)
PSS000071|
European Ancestry|
8,211 individuals
PGP000033 |
Kuchenbaecker KB et al. J Natl Cancer Inst (2017)
|Ext.
Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.13 [1.08, 1.18] Country, birth year
PPM000003 PGS000003
(PRS77_ERneg)
PSS000002|
European Ancestry|
38,722 individuals
PGP000001 |
Mavaddat N et al. J Natl Cancer Inst (2015)
Reported Trait: ER-negative breast cancer OR: 1.45 [1.4, 1.49]
PPM000950 PGS000006
(PRS313_ERneg)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] Country
PPM000949 PGS000006
(PRS313_ERneg)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] Country
PPM000967 PGS000006
(PRS313_ERneg)
PSS000486|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Invasive metachronous contralateral breast cancer HR: 1.24 [1.16, 1.33] Country
PPM000966 PGS000006
(PRS313_ERneg)
PSS000484|
European Ancestry|
56,068 individuals
PGP000109 |
Kramer I et al. Am J Hum Genet (2020)
|Ext.
Reported Trait: Metachronous contralateral breast cancer HR: 1.25 [1.17, 1.33] Country
PPM000981 PGS000346
(PRS287_ERneg)
PSS000498|
Additional Asian Ancestries|
1,492 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.49 [1.26, 1.75] AUROC: 0.587 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000978 PGS000346
(PRS287_ERneg)
PSS000495|
Multi-ancestry (excluding European)|
9,391 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.43 [1.35, 1.52] PCs (1-10), study, array,batch
PPM001024 PGS000006
(PRS313_ERneg)
PSS000521|
European Ancestry|
18,935 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.29 [1.25, 1.33] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001025 PGS000006
(PRS313_ERneg)
PSS000525|
European Ancestry|
12,339 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.23 [1.18, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001026 PGS000006
(PRS313_ERneg)
PSS000522|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.23 [1.18, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001027 PGS000006
(PRS313_ERneg)
PSS000526|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.29 [1.19, 1.41] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001028 PGS000006
(PRS313_ERneg)
PSS000523|
European Ancestry|
13,401 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.29 [1.21, 1.37] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001029 PGS000006
(PRS313_ERneg)
PSS000527|
European Ancestry|
8,752 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.21 [1.15, 1.27] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001034 PGS000006
(PRS313_ERneg)
PSS000529|
European Ancestry|
2,088 individuals
PGP000117 |
Barnes DR et al. Genet Med (2020)
|Ext.
Reported Trait: Incident breast cancer in BRCA1 carriers HR: 1.28 [1.14, 1.44] family history of the appropriate cancer in first- and second-degree relatives
PPM000975 PGS000346
(PRS287_ERneg)
PSS000493|
Additional Asian Ancestries|
21,247 individuals
PGP000112 |
Ho WK et al. Nat Commun (2020)
Reported Trait: ER-negative breast cancer OR: 1.41 [1.36, 1.46] AUROC: 0.594 PCs (1-10), study, array,batch Standardised to SDs of PRs in European controls
PPM000661 PGS000216
(PRS330_TN)
PSS000363|
European Ancestry|
22,821 individuals
PGP000088 |
Zhang H et al. Nat Genet (2020)
Reported Trait: Breast cancer intrinsic-like subtype (triple negative) OR: 1.65 [1.57, 1.73] AUROC: 0.6358
PPM001949 PGS000006
(PRS313_ERneg)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in males OR: 1.37 [1.29, 1.47] Odds Ratio (OR, top 20% vs. bottom 20%): 2.39 [1.93, 2.96]
PPM001950 PGS000006
(PRS313_ERneg)
PSS000974|
European Ancestry|
5,714 individuals
PGP000167 |
Maguire S et al. J Natl Cancer Inst (2021)
|Ext.
Reported Trait: Breast cancer in females OR: 1.38 [1.29, 1.47] Odds Ratio (OR, top 20% vs. bottom 20%): 2.51 [2.05, 3.07]

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
PSS000002 ER-negative breast cancer
[
  • 5,738 cases
  • , 32,984 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
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
PSS000006 ER-negative breast cancer cases
[
  • 1,259 cases
  • , 10,169 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
  • ,SWEBCS
  • ,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
  • ,SWEBCS
  • ,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
  • ,SWEBCS
  • ,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
  • ,SWEBCS
  • ,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
  • ,SWEBCS
  • ,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
  • ,SWEBCS
  • ,UC
  • ,UCLA
  • ,UCSF
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000529 Eligibility was restricted to female BRCA1 and BRCA2 carriers who at completion of the baseline questionnaire were free of any cancer diagnosis (excluding non-melanoma skin cancer) and had not undergone risk-reducing bilateral mastectomy. Participants diagosed with a first breast cancer were considered affected.
[
  • 297 cases
  • , 1,791 controls
]
,
0.0 % Male samples
European 61 cohorts
  • BCFR
  • ,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
  • ,IBCCS
  • ,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
  • ,SWEBCS
  • ,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
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.
PSS000493
[
  • 4,764 cases
  • , 16,483 controls
]
,
0.0 % Male samples
Asian unspecified 10 cohorts
  • ACP
  • ,HERPACC
  • ,HKBCS
  • ,KOHBRA
  • ,MYBRCA
  • ,NagBCS
  • ,SBCGS
  • ,SEBCS
  • ,SGBCC
  • ,TWBCS
PSS000495
[
  • 1,365 cases
  • , 5,156 controls
]
,
0.0 % Male samples
East Asian
(Chinese)
MYBRCA, SGBCC
PSS000495
[
  • 336 cases
  • , 1,332 controls
]
,
0.0 % Male samples
South East Asian
(Malay)
MYBRCA, SGBCC
PSS000495
[
  • 184 cases
  • , 1,018 controls
]
,
0.0 % Male samples
South Asian
(Indian)
MYBRCA, SGBCC
PSS000498
[
  • 280 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