Article
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Nature communications - 25 May 2025
Zanti Maria, O'Mahony Denise G, Parsons Michael T, Dorling Leila, Dennis Joe, Boddicker Nicholas J, Chen Wenan, Hu Chunling, Naven Marc, Yiangou Kristia, Ahearn Thomas U, Ambrosone Christine B, Andrulis Irene L, Antoniou Antonis C, Auer Paul L, Baynes Caroline, Bodelon Clara, Bogdanova Natalia V, Bojesen Stig E, Bolla Manjeet K, Brantley Kristen D, Camp Nicola J, Campbell Archie, Castelao Jose E, Cessna Melissa H, Chang-Claude Jenny, Chen Fei, Chenevix-Trench Georgia, Conroy Don M, Czene Kamila, De Nicolo Arcangela, Domchek Susan M, Dörk Thilo, Dunning Alison M, Eliassen A Heather, Evans D Gareth, Fasching Peter A, Figueroa Jonine D, Flyger Henrik, Gago-Dominguez Manuela, García-Closas Montserrat, Glendon Gord, González-Neira Anna, Grassmann Felix, Hadjisavvas Andreas, Haiman Christopher A, Hamann Ute, Hart Steven N, Hartman Mikael B A, Ho Weang-Kee, Hodge James M, Hoppe Reiner, Howell Sacha J, Jakubowska Anna, Khusnutdinova Elza K, Ko Yon-Dschun, Kraft Peter, Kristensen Vessela N, Lacey James V, Li Jingmei, Lim Geok Hoon, Lindström Sara, Lophatananon Artitaya, Luccarini Craig, Mannermaa Arto, Martinez Maria Elena, Mavroudis Dimitrios, Milne Roger L, Muir Kenneth, Nathanson Katherine L, Nuñez-Torres Rocio, Obi Nadia, Olson Janet E, Palmer Julie R, Panayiotidis Mihalis I, Patel Alpa V, Pharoah Paul D P, Polley Eric C, Rashid Muhammad U, Ruddy Kathryn J, Saloustros Emmanouil, Sawyer Elinor J, Schmidt Marjanka K, Southey Melissa C, Tan Veronique Kiak-Mien, Teo Soo Hwang, Teras Lauren R, Torres Diana, Trentham-Dietz Amy, Truong Thérèse, Vachon Celine M, Wang Qin, Weitzel Jeffrey N, Yadav Siddhartha, Yao Song, Zirpoli Gary R, Cline Melissa S, Devilee Peter, Tavtigian Sean V, Goldgar David E, Couch Fergus J, Easton Douglas F, Spurdle Amanda B, Michailidou Kyriaki
Abstract excerpt
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...