A Population-Based Study of Genes Previously Implicated in Breast Cancer

Chunling Hu(Cornell University), Steven N. Hart(Cornell University), Rohan Gnanaolivu(Cornell University), Hongyan Huang(Harvard University), Kun Y. Lee(Cornell University), Jie Na(Cornell University), Chi Gao(Harvard University), Jenna Lilyquist(Cornell University), Siddhartha Yadav(Cornell University), Nicholas Boddicker(Cornell University), Raed Samara(Cornell University), Josh Klebba(Cornell University), Christine B. Ambrosone(Roswell Park Comprehensive Cancer Center), Hoda Anton‐Culver(University of California, Irvine), Paul L. Auer(Cornell University), Elisa V. Bandera(Rutgers, The State University of New Jersey), Leslie Bernstein(Cornell University), Kimberly A. Bertrand(Boston University), Elizabeth S. Burnside(University of Wisconsin–Madison), Brian D. Carter(American Cancer Society), Heather Eliassen(Brigham and Women's Hospital), Susan M. Gapstur(American Cancer Society), Mia M. Gaudet(American Cancer Society), Christopher A. Haiman(University of Southern California), James M. Hodge(American Cancer Society), David J. Hunter(Harvard University), Eric J. Jacobs(American Cancer Society), Esther M. John(Cornell University), Charles Kooperberg(Cornell University), Allison W. Kurian(Cornell University), Loı̈c Le Marchand(University of Hawaiʻi at Mānoa), Sara Lindströem(University of Washington), Tricia Lindstrom(Cornell University), Huiyan Ma(Cornell University), Susan L. Neuhausen(Cornell University), Polly A. Newcomb(Cornell University), Katie M. O’Brien(Cornell University), Janet E. Olson(Cornell University), Irene M. Ong(University of Wisconsin–Madison), Tuya Pal(Vanderbilt University), Julie R. Palmer(Boston University), Alpa V. Patel(American Cancer Society), Sonya Reid(Vanderbilt University), Lynn Rosenberg(Boston University), Dale P. Sandler(Cornell University), Christopher J. Scott(Cornell University), Rulla M. Tamimi(Cornell University), Jack A. Taylor(Cornell University), Amy Trentham‐Dietz(University of Wisconsin–Madison), Celine M. Vachon(Cornell University), Clarice R. Weinberg(Cornell University), Song Yao(Roswell Park Comprehensive Cancer Center), Argyrios Ziogas(University of California, Irvine), Jeffrey N. Weitzel(Cornell University), David E. Goldgar(Cornell University), Susan M. Domchek(Cornell University), Katherine L. Nathanson(Cornell University), Peter Kraft(Harvard University), Eric C. Polley(Cornell University), Fergus J. Couch(Cornell University)
New England Journal of Medicine
January 20, 2021
10.1056/nejmoa2005936
Cited by 854Open Access
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Abstract

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: , were not associated with an increased risk of breast cancer. CONCLUSIONS: This study provides estimates of the prevalence and risk of breast cancer associated with pathogenic variants in known breast cancer-predisposition genes in the U.S. population. These estimates can inform cancer testing and screening and improve clinical management strategies for women in the general population with inherited pathogenic variants in these genes. (Funded by the National Institutes of Health and the Breast Cancer Research Foundation.).

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