Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

N Mavaddat; L Dorling; S Carvalho; J Allen; A González-Neira; R Keeman; MK Bolla; J Dennis; Q Wang; TU Ahearn; IL Andrulis; MW Beckmann; S Behrens; J Benitez; M Bermisheva; C Blomqvist; NV Bogdanova; SE Bojesen; I Briceno; T Brüning; NJ Camp; A Campbell; JE Castelao; J Chang-Claude; SJ Chanock; G Chenevix-Trench; H Christiansen; K Czene; T Dörk; M Eriksson; DG Evans; PA Fasching; JD Figueroa; H Flyger; M Gabrielson; M Gago-Dominguez; J Geisler; GG Giles; P Guénel; A Hadjisavvas; E Hahnen; P Hall; U Hamann; JM Hartikainen; M Hartman; R Hoppe; A Howell; A Jakubowska; A Jung; EK Khusnutdinova; VN Kristensen; J Li; SH Lim; A Lindblom; MA Loizidou; A Lophatananon; J Lubiński; MJ Madsen; A Mannermaa; M Manoochehri; S Margolin; D Mavroudis; RL Milne; NAM Taib; A Morra; K Muir; N Obi; A Osorio; TW Park-Simon; P Peterlongo; P Radice; E Saloustros; EJ Sawyer; RK Schmutzler; M Shah; X Sim; MC Southey; H Thorne; I Tomlinson; D Torres; T Truong; CH Yip; AB Spurdle; MPG Vreeswijk; AM Dunning; M García-Closas; PDP Pharoah; A Kvist; TA Muranen; H Nevanlinna; SH Teo; P Devilee; MK Schmidt; DF Easton

Journal article

Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

N Mavaddat, L Dorling, S Carvalho, J Allen, A González-Neira, R Keeman, MK Bolla, J Dennis, Q Wang, TU Ahearn, IL Andrulis, MW Beckmann, S Behrens, J Benitez, M Bermisheva, C Blomqvist, NV Bogdanova, SE Bojesen, I Briceno, T Brüning Show all

JAMA Oncology | Published : 2022

DOI: 10.1001/jamaoncol.2021.6744

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Abstract

IMPORTANCE 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. OBJECTIVE To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies. DESIGN, SETTING, AND PARTICIPANTS 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 betwe..

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