作者
Chunling Hu, Steven N Hart, Rohan Gnanaolivu, Hongyan Huang, Kun Y Lee, Jie Na, Chi Gao, Jenna Lilyquist, Siddhartha Yadav, Nicholas J Boddicker, Raed Samara, Josh Klebba, Christine B Ambrosone, Hoda Anton-Culver, Paul Auer, Elisa V Bandera, Leslie Bernstein, Kimberly A Bertrand, Elizabeth S Burnside, Brian D Carter, Heather Eliassen, Susan M Gapstur, Mia Gaudet, Christopher Haiman, James M Hodge, David J Hunter, Eric J Jacobs, Esther M John, Charles Kooperberg, Allison W Kurian, Loic Le Marchand, Sara Lindstroem, Tricia Lindstrom, Huiyan Ma, Susan Neuhausen, Polly A Newcomb, Katie M O’Brien, Janet E Olson, Irene M Ong, Tuya Pal, Julie R Palmer, Alpa V Patel, Sonya Reid, Lynn Rosenberg, Dale P Sandler, Christopher Scott, Rulla Tamimi, Jack A Taylor, Amy Trentham-Dietz, Celine M Vachon, Clarice Weinberg, Song Yao, Argyrios Ziogas, Jeffrey N Weitzel, David E Goldgar, Susan M Domchek, Katherine L Nathanson, Peter Kraft, Eric C Polley, Fergus J Couch
发表日期
2021/2/4
期刊
New England Journal of Medicine
卷号
384
期号
5
页码范围
440-451
出版商
Massachusetts Medical Society
简介
Background
Population-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and management in women with inherited pathogenic variants.
Methods
In a population-based case–control study, we performed sequencing using a custom multigene amplicon-based panel to identify germline pathogenic variants in 28 cancer-predisposition genes among 32,247 women with breast cancer (case patients) and 32,544 unaffected women (controls) from population-based studies in the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Associations between pathogenic variants in each gene and the risk of breast cancer were assessed.
Results
Pathogenic variants in 12 established breast cancer–predisposition genes were detected in 5.03% of case patients and in 1.63% of controls …
学术搜索中的文章
C Hu, SN Hart, R Gnanaolivu, H Huang, KY Lee, J Na… - New England Journal of Medicine, 2021