PGS Publication: PGP000117

Publication Information (EuropePMC)
Title Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
PubMed ID 32665703(Europe PMC)
doi 10.1038/s41436-020-0862-x
Publication Date July 15, 2020
Journal Genet Med
Author(s) Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN, kConFab Investigators, HEBON Investigators, GENEPSO Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse TA, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud JT, Lubiński J, Mai PL, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nikitina-Zake L, Noguès C, Olah E, Olopade OI, Ong KR, O'Shaughnessy-Kirwan A, Osorio A, Ott CE, Papi L, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips KA, Prajzendanc K, Pujana MA, Radice P, Ramser J, Ramus SJ, Rantala J, Rennert G, Risch HA, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah PD, Sharma P, Side LE, Singer CF, Slavin TP, Soucy P, Southey MC, Spurdle AB, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Trainer AH, Tung N, van Engelen K, van Rensburg EJ, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Consortium of Investigators of Modifiers of BRCA and BRCA2.
Released in PGS Catalog: Dec. 8, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000351 PRS_EOC PGP000117 Barnes DR et al. Genet Med (2020) Invasive epithelial ovarian cancer ovarian carcinoma 30 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000351/ScoringFiles/PGS000351.txt.gz
PGS000352 PRS_HGS PGP000117 Barnes DR et al. Genet Med (2020) High grade serous ovarian cancer high grade ovarian serous adenocarcinoma 22 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000352/ScoringFiles/PGS000352.txt.gz

External PGS Evaluated By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000004 PRS313_BC PGP000002 Mavaddat N et al. Am J Hum Genet (2018) Breast Cancer breast carcinoma 313 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000004/ScoringFiles/PGS000004.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 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000005/ScoringFiles/PGS000005.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

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001012 PGS000004 (PRS313_BC) PSS000521 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: Breast cancer in BRCA1 carriers HR: 1.2 [1.17, 1.23] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001013 PGS000004 (PRS313_BC) PSS000525 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: Breast cancer in BRCA2 carriers HR: 1.31 [1.26, 1.36] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001014 PGS000004 (PRS313_BC) PSS000522 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: ER negative breast cancer in BRCA1 carriers HR: 1.09 [1.05, 1.13] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001015 PGS000004 (PRS313_BC) PSS000526 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: ER negative breast cancer in BRCA2 carriers HR: 1.19 [1.1, 1.29] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001016 PGS000004 (PRS313_BC) PSS000523 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: ER positive breast cancer in BRCA1 carriers HR: 1.44 [1.35, 1.54] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001017 PGS000004 (PRS313_BC) PSS000527 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: ER positive breast cancer in BRCA2 carriers HR: 1.36 [1.3, 1.43] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001018 PGS000005 (PRS313_ERpos) PSS000521 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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
PPM001024 PGS000006 (PRS313_ERneg) PSS000521 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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 PGP000117
Barnes DR et al. (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
PPM001030 PGS000351 (PRS_EOC) PSS000524 PGP000117
Barnes DR et al. (2020)
Reported Trait: Ovarian cancer in BRCA1 carriers HR: 1.31 [1.24, 1.39] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001031 PGS000351 (PRS_EOC) PSS000528 PGP000117
Barnes DR et al. (2020)
Reported Trait: Ovarian cancer in BRCA2 carriers HR: 1.42 [1.28, 1.58] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001032 PGS000352 (PRS_HGS) PSS000524 PGP000117
Barnes DR et al. (2020)
Reported Trait: Ovarian cancer in BRCA1 carriers HR: 1.32 [1.25, 1.4] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001033 PGS000352 (PRS_HGS) PSS000528 PGP000117
Barnes DR et al. (2020)
Reported Trait: Ovarian cancer in BRCA2 carriers HR: 1.43 [1.29, 1.59] birth cohort, PCs(1-4) of ancestry, family history in first- and second-degree relatives
PPM001034 PGS000006 (PRS313_ERneg) PSS000529 PGP000117
Barnes DR et al. (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
PPM001035 PGS000004 (PRS313_BC) PSS000531 PGP000117
Barnes DR et al. (2020)
Ext.
Reported Trait: Incidient breast cancer in BRCA2 carriers HR: 1.36 [1.17, 1.57] family history of the appropriate cancer in first- and second-degree relatives
PPM001036 PGS000352 (PRS_HGS) PSS000530 PGP000117
Barnes DR et al. (2020)
Reported Trait: Incident ovarian cancer in BRCA1 carriers HR: 1.28 [1.06, 1.55] family history of the appropriate cancer in first- and second-degree relatives
PPM001037 PGS000352 (PRS_HGS) PSS000532 PGP000117
Barnes DR et al. (2020)
Reported Trait: Incident ovarian cancer in BRCA2 carriers HR: 1.45 [1.13, 1.86] family history of the appropriate cancer in first- and second-degree relatives

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000524
[
  • 2,068 cases
  • , 16,867 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000528
[
  • 718 cases
  • , 11,621 controls
]
,
0.0 % Male samples
European 59 cohorts
  • BCFR-AU
  • ,BCFR-NY
  • ,BCFR-PA
  • ,BCFR-UTAH
  • ,BFBOCC
  • ,BMBSA
  • ,BRICOH
  • ,CNIO
  • ,COH
  • ,CONSIT TEAM
  • ,CopBCS
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000530 To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baselinne questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tube, or peritoneal cancer during the follow-up were considered affected.
[
  • 108 cases
  • , 3,044 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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000531 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.
[
  • 215 cases
  • , 1,542 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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab
PSS000532 To assess associationss between the PRS and ovarian cancer risk, eligibility was restricted to women who had not been diagnosed with ovarian cancer and had not had RRSO at the time of baseline questionnaire completion. Carriers diagnosed with invasive ovarian, fallopian tbe, or peritoneal cancer during the follow-up were considered affected.
[
  • 56 cases
  • , 2,439 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
  • ,DFCI
  • ,DKFZ
  • ,Demokritos
  • ,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
  • ,UCSANFRAN
  • ,UKGRFOCR
  • ,UPENN
  • ,UPITT
  • ,VFCTG
  • ,WCRI
  • ,kConFab