%0 Journal Article
%A Mavaddat, Nasim
%A Dorling, Leila
%A Carvalho, Sara
%A Allen, Jamie
%A González-Neira, Anna
%A Keeman, Renske
%A Bolla, Manjeet K
%A Dennis, Joe
%A Wang, Qin
%A Ahearn, Thomas U
%A Andrulis, Irene L
%A Beckmann, Matthias W
%A Behrens, Sabine
%A Benitez, Javier
%A Bermisheva, Marina
%A Blomqvist, Carl
%A Bogdanova, Natalia V
%A Bojesen, Stig E
%A Briceno, Ignacio
%A Brüning, Thomas
%A Camp, Nicola J
%A Campbell, Archie
%A Castelao, Jose E
%A Chang-Claude, Jenny
%A Chanock, Stephen J
%A Chenevix-Trench, Georgia
%A Christiansen, Hans
%A Czene, Kamila
%A Dörk, Thilo
%A Eriksson, Mikael
%A Evans, D Gareth
%A Fasching, Peter A
%A Figueroa, Jonine D
%A Flyger, Henrik
%A Gabrielson, Marike
%A Gago-Dominguez, Manuela
%A Geisler, Jürgen
%A Giles, Graham G
%A Guénel, Pascal
%A Hadjisavvas, Andreas
%A Hahnen, Eric
%A Hall, Per
%A Hamann, Ute
%A Hartikainen, Jaana M
%A Hartman, Mikael
%A Hoppe, Reiner
%A Howell, Anthony
%A Jakubowska, Anna
%A Jung, Audrey
%A Khusnutdinova, Elza K
%A Kristensen, Vessela N
%A Li, Jingmei
%A Lim, Swee Ho
%A Lindblom, Annika
%A Loizidou, Maria A
%A Lophatananon, Artitaya
%A Lubinski, Jan
%A Madsen, Michael J
%A Mannermaa, Arto
%A Manoochehri, Mehdi
%A Margolin, Sara
%A Mavroudis, Dimitrios
%A Milne, Roger L
%A Mohd Taib, Nur Aishah
%A Morra, Anna
%A Muir, Kenneth
%A Obi, Nadia
%A Osorio, Ana
%A Park-Simon, Tjoung-Won
%A Peterlongo, Paolo
%A Radice, Paolo
%A Saloustros, Emmanouil
%A Sawyer, Elinor J
%A Schmutzler, Rita K
%A Shah, Mitul
%A Sim, Xueling
%A Southey, Melissa C
%A Thorne, Heather
%A Tomlinson, Ian
%A Torres, Diana
%A Truong, Thérèse
%A Yip, Cheng Har
%A Spurdle, Amanda B
%A Vreeswijk, Maaike P G
%A Dunning, Alison M
%A García-Closas, Montserrat
%A Pharoah, Paul D P
%A Kvist, Anders
%A Muranen, Taru A
%A Nevanlinna, Heli
%A Teo, Soo Hwang
%A Devilee, Peter
%A Schmidt, Marjanka K
%A Easton, Douglas F
%T Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
%J JAMA oncology
%V 8
%N 3
%@ 2374-2437
%C Chicago, Ill.
%I American Medical Association
%M DKFZ-2022-00184
%P e216744
%D 2022
%Z 2022 Mar 1;8(3):e216744
%X 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.To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies.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.Protein-truncating variants and likely pathogenic missense variants in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53.The intrinsic-like BC subtypes as defined by estrogen receptor, progesterone receptor, and ERBB2 (formerly known as HER2) status, and tumor grade; morphology; size; stage; lymph node involvement; subtype-specific odds ratios (ORs) for carrying protein-truncating variants and pathogenic missense variants in the 9 BC susceptibility genes.The mean (SD) ages at interview (control participants) and diagnosis (cases) were 55.1 (11.9) and 55.8 (10.6) years, respectively; all participants were of European or East Asian ethnicity. There was substantial heterogeneity in the distribution of intrinsic subtypes by gene. RAD51C, RAD51D, and BARD1 variants were associated mainly with triple-negative disease (OR, 6.19 [95
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:35084436
%R 10.1001/jamaoncol.2021.6744
%U https://inrepo02.dkfz.de/record/178655