%0 Journal Article
%A Zanti, Maria
%A O'Mahony, Denise G
%A Parsons, Michael T
%A Dorling, Leila
%A Dennis, Joe
%A Boddicker, Nicholas J
%A Chen, Wenan
%A Hu, Chunling
%A Naven, Marc
%A Yiangou, Kristia
%A Ahearn, Thomas U
%A Ambrosone, Christine B
%A Andrulis, Irene L
%A Antoniou, Antonis C
%A Auer, Paul L
%A Baynes, Caroline
%A Bodelon, Clara
%A Bogdanova, Natalia V
%A Bojesen, Stig E
%A Bolla, Manjeet K
%A Brantley, Kristen D
%A Camp, Nicola J
%A Campbell, Archie
%A Castelao, Jose E
%A Cessna, Melissa H
%A Chang-Claude, Jenny
%A Chen, Fei
%A Chenevix-Trench, Georgia
%A Conroy, Don M
%A Czene, Kamila
%A De Nicolo, Arcangela
%A Domchek, Susan M
%A Dörk, Thilo
%A Dunning, Alison M
%A Eliassen, A Heather
%A Evans, D Gareth
%A Fasching, Peter A
%A Figueroa, Jonine D
%A Flyger, Henrik
%A Gago-Dominguez, Manuela
%A García-Closas, Montserrat
%A Glendon, Gord
%A González-Neira, Anna
%A Grassmann, Felix
%A Hadjisavvas, Andreas
%A Haiman, Christopher A
%A Hamann, Ute
%A Hart, Steven N
%A Hartman, Mikael B A
%A Ho, Weang-Kee
%A Hodge, James M
%A Hoppe, Reiner
%A Howell, Sacha J
%A Jakubowska, Anna
%A Khusnutdinova, Elza K
%A Ko, Yon-Dschun
%A Kraft, Peter
%A Kristensen, Vessela N
%A Lacey, James V
%A Li, Jingmei
%A Lim, Geok Hoon
%A Lindström, Sara
%A Lophatananon, Artitaya
%A Luccarini, Craig
%A Mannermaa, Arto
%A Martinez, Maria Elena
%A Mavroudis, Dimitrios
%A Milne, Roger L
%A Muir, Kenneth
%A Nathanson, Katherine L
%A Nuñez-Torres, Rocio
%A Obi, Nadia
%A Olson, Janet E
%A Palmer, Julie R
%A Panayiotidis, Mihalis I
%A Patel, Alpa V
%A Pharoah, Paul D P
%A Polley, Eric C
%A Rashid, Muhammad U
%A Ruddy, Kathryn J
%A Saloustros, Emmanouil
%A Sawyer, Elinor J
%A Schmidt, Marjanka K
%A Southey, Melissa C
%A Tan, Veronique Kiak-Mien
%A Teo, Soo Hwang
%A Teras, Lauren R
%A Torres, Diana
%A Trentham-Dietz, Amy
%A Truong, Thérèse
%A Vachon, Celine M
%A Wang, Qin
%A Weitzel, Jeffrey N
%A Yadav, Siddhartha
%A Yao, Song
%A Zirpoli, Gary R
%A Cline, Melissa S
%A Devilee, Peter
%A Tavtigian, Sean V
%A Goldgar, David E
%A Couch, Fergus J
%A Easton, Douglas F
%A Spurdle, Amanda B
%A Michailidou, Kyriaki
%T Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
%J Nature Communications
%V 16
%N 1
%@ 2041-1723
%C [London]
%I Springer Nature
%M DKFZ-2025-01084
%P 4852
%D 2025
%Z Hamann, Ute: Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ),
%X Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4
%K Humans
%K Female
%K Case-Control Studies
%K BRCA2 Protein: genetics
%K Breast Neoplasms: genetics
%K BRCA1 Protein: genetics
%K Genetic Predisposition to Disease
%K Genetic Testing
%K Germ-Line Mutation
%K Middle Aged
%K BRCA2 Protein (NLM Chemicals)
%K BRCA1 Protein (NLM Chemicals)
%K BRCA2 protein, human (NLM Chemicals)
%K BRCA1 protein, human (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:40413188
%R 10.1038/s41467-025-59979-6
%U https://inrepo02.dkfz.de/record/301576