TY  - JOUR
AU  - Mavaddat, Nasim
AU  - Dorling, Leila
AU  - Carvalho, Sara
AU  - Allen, Jamie
AU  - González-Neira, Anna
AU  - Keeman, Renske
AU  - Bolla, Manjeet K
AU  - Dennis, Joe
AU  - Wang, Qin
AU  - Ahearn, Thomas U
AU  - Andrulis, Irene L
AU  - Beckmann, Matthias W
AU  - Behrens, Sabine
AU  - Benitez, Javier
AU  - Bermisheva, Marina
AU  - Blomqvist, Carl
AU  - Bogdanova, Natalia V
AU  - Bojesen, Stig E
AU  - Briceno, Ignacio
AU  - Brüning, Thomas
AU  - Camp, Nicola J
AU  - Campbell, Archie
AU  - Castelao, Jose E
AU  - Chang-Claude, Jenny
AU  - Chanock, Stephen J
AU  - Chenevix-Trench, Georgia
AU  - Christiansen, Hans
AU  - Czene, Kamila
AU  - Dörk, Thilo
AU  - Eriksson, Mikael
AU  - Evans, D Gareth
AU  - Fasching, Peter A
AU  - Figueroa, Jonine D
AU  - Flyger, Henrik
AU  - Gabrielson, Marike
AU  - Gago-Dominguez, Manuela
AU  - Geisler, Jürgen
AU  - Giles, Graham G
AU  - Guénel, Pascal
AU  - Hadjisavvas, Andreas
AU  - Hahnen, Eric
AU  - Hall, Per
AU  - Hamann, Ute
AU  - Hartikainen, Jaana M
AU  - Hartman, Mikael
AU  - Hoppe, Reiner
AU  - Howell, Anthony
AU  - Jakubowska, Anna
AU  - Jung, Audrey
AU  - Khusnutdinova, Elza K
AU  - Kristensen, Vessela N
AU  - Li, Jingmei
AU  - Lim, Swee Ho
AU  - Lindblom, Annika
AU  - Loizidou, Maria A
AU  - Lophatananon, Artitaya
AU  - Lubinski, Jan
AU  - Madsen, Michael J
AU  - Mannermaa, Arto
AU  - Manoochehri, Mehdi
AU  - Margolin, Sara
AU  - Mavroudis, Dimitrios
AU  - Milne, Roger L
AU  - Mohd Taib, Nur Aishah
AU  - Morra, Anna
AU  - Muir, Kenneth
AU  - Obi, Nadia
AU  - Osorio, Ana
AU  - Park-Simon, Tjoung-Won
AU  - Peterlongo, Paolo
AU  - Radice, Paolo
AU  - Saloustros, Emmanouil
AU  - Sawyer, Elinor J
AU  - Schmutzler, Rita K
AU  - Shah, Mitul
AU  - Sim, Xueling
AU  - Southey, Melissa C
AU  - Thorne, Heather
AU  - Tomlinson, Ian
AU  - Torres, Diana
AU  - Truong, Thérèse
AU  - Yip, Cheng Har
AU  - Spurdle, Amanda B
AU  - Vreeswijk, Maaike P G
AU  - Dunning, Alison M
AU  - García-Closas, Montserrat
AU  - Pharoah, Paul D P
AU  - Kvist, Anders
AU  - Muranen, Taru A
AU  - Nevanlinna, Heli
AU  - Teo, Soo Hwang
AU  - Devilee, Peter
AU  - Schmidt, Marjanka K
AU  - Easton, Douglas F
TI  - Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
JO  - JAMA oncology
VL  - 8
IS  - 3
SN  - 2374-2437
CY  - Chicago, Ill.
PB  - American Medical Association
M1  - DKFZ-2022-00184
SP  - e216744
PY  - 2022
N1  - 2022 Mar 1;8(3):e216744
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:35084436
DO  - DOI:10.1001/jamaoncol.2021.6744
UR  - https://inrepo02.dkfz.de/record/178655
ER  -