TY  - JOUR
AU  - Zanti, Maria
AU  - O'Mahony, Denise G
AU  - Parsons, Michael T
AU  - Dorling, Leila
AU  - Dennis, Joe
AU  - Boddicker, Nicholas J
AU  - Chen, Wenan
AU  - Hu, Chunling
AU  - Naven, Marc
AU  - Yiangou, Kristia
AU  - Ahearn, Thomas U
AU  - Ambrosone, Christine B
AU  - Andrulis, Irene L
AU  - Antoniou, Antonis C
AU  - Auer, Paul L
AU  - Baynes, Caroline
AU  - Bodelon, Clara
AU  - Bogdanova, Natalia V
AU  - Bojesen, Stig E
AU  - Bolla, Manjeet K
AU  - Brantley, Kristen D
AU  - Camp, Nicola J
AU  - Campbell, Archie
AU  - Castelao, Jose E
AU  - Cessna, Melissa H
AU  - Chang-Claude, Jenny
AU  - Chen, Fei
AU  - Chenevix-Trench, Georgia
AU  - Conroy, Don M
AU  - Czene, Kamila
AU  - De Nicolo, Arcangela
AU  - Domchek, Susan M
AU  - Dörk, Thilo
AU  - Dunning, Alison M
AU  - Eliassen, A Heather
AU  - Evans, D Gareth
AU  - Fasching, Peter A
AU  - Figueroa, Jonine D
AU  - Flyger, Henrik
AU  - Gago-Dominguez, Manuela
AU  - García-Closas, Montserrat
AU  - Glendon, Gord
AU  - González-Neira, Anna
AU  - Grassmann, Felix
AU  - Hadjisavvas, Andreas
AU  - Haiman, Christopher A
AU  - Hamann, Ute
AU  - Hart, Steven N
AU  - Hartman, Mikael B A
AU  - Ho, Weang-Kee
AU  - Hodge, James M
AU  - Hoppe, Reiner
AU  - Howell, Sacha J
AU  - Jakubowska, Anna
AU  - Khusnutdinova, Elza K
AU  - Ko, Yon-Dschun
AU  - Kraft, Peter
AU  - Kristensen, Vessela N
AU  - Lacey, James V
AU  - Li, Jingmei
AU  - Lim, Geok Hoon
AU  - Lindström, Sara
AU  - Lophatananon, Artitaya
AU  - Luccarini, Craig
AU  - Mannermaa, Arto
AU  - Martinez, Maria Elena
AU  - Mavroudis, Dimitrios
AU  - Milne, Roger L
AU  - Muir, Kenneth
AU  - Nathanson, Katherine L
AU  - Nuñez-Torres, Rocio
AU  - Obi, Nadia
AU  - Olson, Janet E
AU  - Palmer, Julie R
AU  - Panayiotidis, Mihalis I
AU  - Patel, Alpa V
AU  - Pharoah, Paul D P
AU  - Polley, Eric C
AU  - Rashid, Muhammad U
AU  - Ruddy, Kathryn J
AU  - Saloustros, Emmanouil
AU  - Sawyer, Elinor J
AU  - Schmidt, Marjanka K
AU  - Southey, Melissa C
AU  - Tan, Veronique Kiak-Mien
AU  - Teo, Soo Hwang
AU  - Teras, Lauren R
AU  - Torres, Diana
AU  - Trentham-Dietz, Amy
AU  - Truong, Thérèse
AU  - Vachon, Celine M
AU  - Wang, Qin
AU  - Weitzel, Jeffrey N
AU  - Yadav, Siddhartha
AU  - Yao, Song
AU  - Zirpoli, Gary R
AU  - Cline, Melissa S
AU  - Devilee, Peter
AU  - Tavtigian, Sean V
AU  - Goldgar, David E
AU  - Couch, Fergus J
AU  - Easton, Douglas F
AU  - Spurdle, Amanda B
AU  - Michailidou, Kyriaki
TI  - Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
JO  - Nature Communications
VL  - 16
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Springer Nature
M1  - DKFZ-2025-01084
SP  - 4852
PY  - 2025
N1  - Hamann, Ute: Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ),
AB  - 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
KW  - Humans
KW  - Female
KW  - Case-Control Studies
KW  - BRCA2 Protein: genetics
KW  - Breast Neoplasms: genetics
KW  - BRCA1 Protein: genetics
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Germ-Line Mutation
KW  - Middle Aged
KW  - BRCA2 Protein (NLM Chemicals)
KW  - BRCA1 Protein (NLM Chemicals)
KW  - BRCA2 protein, human (NLM Chemicals)
KW  - BRCA1 protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:40413188
DO  - DOI:10.1038/s41467-025-59979-6
UR  - https://inrepo02.dkfz.de/record/301576
ER  -