Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
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, Berthet P, Colas C, Collonge-Rame M, Delnatte C, Faivre L, Giraud S, Lasset C, Mari V, Mebirouk N, Mouret-Fourme E, Schuster H, Stoppa-Lyonnet D, Adlard J, Ahmed M, Antoniou A, Barrowdale D, Brennan P, Brewer C, Cook J, Davidson R, Easton D, Eeles R, Evans D, Frost D, Hanson H, Izatt L, Ong K, Side L, O’Shaughnessy-Kirwan A, Tischkowitz M, Walker L, Collonge-Rame M, Cook J, Daly M, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding Y, Domchek S, Dorfling C, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans D, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz P, Garber J, Gehrig A, Gerdes A, Gesta P, Giraud S, Glendon G, Godwin A, Goldgar D, González-Neira A, Greene M, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst F, Hooning M, Horvath J, Hu C, Hulick P, Imyanitov E, Chenevix-Trench G, Phillips K, Spurdle A, Blok M, Devilee P, Hogervorst F, Hooning M, Koudijs M, Mensenkamp A, Meijers-Heijboer H, Rookus M, van Engelen K, Andrieu N, Noguès C, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, John E, Joseph V, Karlan B, Kast K, Koudijs M, Kruse T, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud J, Lubiński J, L. P, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer H, Meindl A, Mensenkamp A, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan A, Nathanson K, Neuhausen S, Nevanlinna H, Niederacher D, Nielsen F, Nikitina-Zake L, Noguès C, Olah E, Olopade O, Ong K, O’Shaughnessy-Kirwan A, Osorio A, Ott C, Papi L, Park S, Parsons M, Pedersen I, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips K, Prajzendanc K, Pujana M, Radice P, Ramser J, Ramus S, Rantala J, Rennert G, Risch H, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah P, Sharma P, Side L, Singer C, Slavin T, Soucy P, Southey M, Spurdle A, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan Y, Teixeira M, Teo S, Thull D, Tischkowitz M, Tognazzo S, Toland A, Trainer A, Tung N, van Engelen K, van Rensburg E, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel J, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch F, Schmutzler R, Simard J, Easton D, Chenevix-Trench G, Antoniou A. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genetics In Medicine 2020, 22: 1653-1666. PMID: 32665703, PMCID: PMC7521995, DOI: 10.1038/s41436-020-0862-x.Peer-Reviewed Original ResearchConceptsEpithelial ovarian cancerPathogenic variant carriersProspective cohortPolygenic risk scoresVariant carriersCancer riskRisk scoreStrong associationEOC riskHigh-grade serous epithelial ovarian cancerSerous epithelial ovarian cancerER-positive BCBRCA2 pathogenic variantsCarriers of BRCA1Absolute risk differenceEpithelial ovarian cancer riskGeneral population estimatesOvarian cancer riskHR estimatesBRCA2 pathogenic variant carriersBRCA1 carriersBRCA1/2 carriersOvarian cancerBC riskEstrogen receptor
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