Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

Abstract 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 ev...

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முதன்மை ஆசிரியர்கள்:	Maria Zanti, Denise G. O’Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas J. Boddicker, Wenan Chen, Chunling Hu, Marc Naven, Kristia Yiangou, Thomas U. Ahearn, Christine B. Ambrosone, Irene L. Andrulis, Antonis C. Antoniou, Paul L. Auer, Caroline Baynes, Clara Bodelon, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Kristen D. Brantley, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, Fei Chen, Georgia Chenevix-Trench, NBCS Collaborators, Don M. Conroy, Kamila Czene, Arcangela De Nicolo, Susan M. Domchek, Thilo Dörk, Alison M. Dunning, A. Heather Eliassen, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Henrik Flyger, Manuela Gago-Dominguez, Montserrat García-Closas, Gord Glendon, Anna González-Neira, Felix Grassmann, Andreas Hadjisavvas, Christopher A. Haiman, Ute Hamann, Steven N. Hart, Mikael B. A. Hartman, Weang-Kee Ho, James M. Hodge, Reiner Hoppe, Sacha J. Howell, kConFab Investigators, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Peter Kraft, Vessela N. Kristensen, James V. Lacey, Jingmei Li, Geok Hoon Lim, Sara Lindström, Artitaya Lophatananon, Craig Luccarini, Arto Mannermaa, Maria Elena Martinez, Dimitrios Mavroudis, Roger L. Milne, Kenneth Muir, Katherine L. Nathanson, Rocio Nuñez-Torres, Nadia Obi, Janet E. Olson, Julie R. Palmer, Mihalis I. Panayiotidis, Alpa V. Patel, Paul D. P. Pharoah, Eric C. Polley, Muhammad U. Rashid, Kathryn J. Ruddy, Emmanouil Saloustros, Elinor J. Sawyer, Marjanka K. Schmidt, Melissa C. Southey, Veronique Kiak-Mien Tan, Soo Hwang Teo, Lauren R. Teras, Diana Torres, Amy Trentham-Dietz, Thérèse Truong, Celine M. Vachon, Qin Wang, Jeffrey N. Weitzel, Siddhartha Yadav, Song Yao, Gary R. Zirpoli, Melissa S. Cline, Peter Devilee, Sean V. Tavtigian, David E. Goldgar, Fergus J. Couch, Douglas F. Easton, Amanda B. Spurdle, Kyriaki Michailidou
வடிவம்:	Artigo
மொழி:	Inglês
வெளியிடப்பட்டது:	Nature Portfolio 2025-05-01
தொடர்:	Nature Communications
ஆன்லைன் அணுகல்:	https://doi.org/10.1038/s41467-025-59979-6
குறிச்சொற்கள்:	குறிச்சொல்லை சேர்க்கவும் டாக்‌ஸ் இல்லை, இந்த பதிவுக்கு குறிச்சொல் சேர்க்கும் முதல் நபராக இருங்கள்!