biostudies-literatureBreast Cancer Association ConsortiumWellcome Truste216744https://www.ebi.ac.uk/biostudies/studies/S-EPMC8796069biostudies-literatureUnknown8(3)<h4>Importance</h4>Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction.<h4>Objective</h4>To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies.<h4>Design, setting, and participants</h4>The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients and 46 387 control participants, comprising women aged 18 to 79 years who were sampled independently of family history from 38 studies. Studies were conducted between 1991 and 2016. Sequencing and analysis took place between 2016 and 2021.<h4JAMA oncologyPathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.PMC8796069104036/Z/14/Z216767/Z/19/ZMavroudis DShah MFlyger HGarcia-Closas MDork TObi NSouthey MCAndrulis ILKristensen VNAhearn TULubinski JGuenel PPharoah PDPLophatananon AWang QDorling LKeeman RBlomqvist CEvans DGEaston DFHoppe RBreast Cancer Association ConsortiumMuranen TAChenevix-Trench GMohd Taib NAMavaddat NYip CHBolla MKChanock SJHartikainen JMLi JMilne RLChang-Claude JMorra AHahnen EHowell AFasching PAHadjisavvas ATeo SHHall PLim SHKhusnutdinova EKGabrielson MSchmidt MKNevanlinna HSchmutzler RKEriksson MTruong TLoizidou MASaloustros EMadsen MJGeisler JChristiansen HFigueroa JDTomlinson IKvist ABriceno IRadice PBenitez JBojesen SECarvalho SBogdanova NVThorne HBeckmann MWGiles GGTorres DDevilee PMuir KBehrens SCamp NJManoochehri MGonzalez-Neira APark-Simon TWCzene KPeterlongo PMargolin SOsorio AGago-Dominguez MSpurdle ABDennis JLindblom ASawyer EJSim XJung AVreeswijk MPGAllen JBermisheva MCampbell ACastelao JEHamann UJakubowska ADunning AMHartman MMannermaa ABruning TfalsePathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.<h4>Importance</h4>Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction.<h4>Objective</h4>To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies.<h4>Design, setting, and participants</h4>The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients and 46 387 control participants, comprising women aged 18 to 79 years who were sampled independently of family history from 38 studies. Studies were conducted between 1991 and 2016. Sequencing and analysis took place between 2016 and 2021.<h42022-01-01T00:00:00Z2022 Mar2025-04-04T08:58:12.523Z2025-04-04T08:58:12.523ZS-EPMC87960693508443610.1001/jamaoncol.2021.6744