TY - T1 - Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers SN - / UR - http://hdl.handle.net/10138/299319 T3 - A1 - Kuchenbaecker, K.B.; McGuffog, L.; Barrowdale, D.; Lee, Andrew; Soucy, P.; Dennis, J.; Domchek, S.M.; Robson, M.; Spurdle, A.B.; Ramus, S.J.; Mavaddat, N.; Terry, M.B.; Neuhausen, S.L.; Schmutzler, R.K.; Simard, J.; Pharoah, P.D.P.; Offit, K.; Couch, F.J.; Chenevix-Trench, G.; Easton, D.F.; Antoniou, A.C.; Healey, S.; Lush, M.; Hamann, U.; Southey, M.; John, E.M.; Chung, W.K.; Daly, M. B.; Buys, S.S.; Goldgar, D.E.; Dorfling, C.M.; van Rensburg, E.J.; Ding, Y.C.; Ejlertsen, B.; Gerdes, A.-M.; Hansen, T.V.O.; Slager, S.; Hallberg, E.; Benitez, J.; Osorio, A.; Cohen, N.; Lawler, W.; Weitzel, J.N.; Peterlongo, P.; Pensotti, V.; Dolcetti, R.; Barile, M.; Aittomäki, K.; Nevanlinna, H.; Rantala, J. A2 - PB - Y1 - 2017 LA - eng AB - Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical man... VO - IS - SP - OP - KW - BRCA1 protein; BRCA2 protein; estrogen receptor; estrogen receptor, adult; age; Article; breast cancer; cancer patient; cancer risk; cancer susceptibility; female; gene mutation; genome-wide association study; human; major clinical study; ovary cancer; population research; priority journal; single nucleotide polymorphism; adolescent; Breast Neoplasms; genetic predisposition; genetics; heterozygote; metabolism; middle aged; multifactorial inheritance; mutation; Ovarian Neoplasms; procedures; prognosis; proportional hazards model; risk assessment; risk factor; statistics and numerical data; tumor suppressor gene; young adult, Adolescent; Adult; Female; Genes, BRCA1; Genes, BRCA2; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Multifactorial Inheritance; Mutation; Polymorphism, Single Nucleotide; Prognosis; Proportional Hazards Models; Receptors, Estrogen; Risk Assessment; Risk Factors; Young Adult; 3122 Cancers N1 - PP - ER -