Article
Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.
Clinical cancer research : an official journal of the American Association for Cancer Research - 6 Jan 2025
Huang Huaizhi, Couch Ronan E, Karam Rachid, Hu Chunling, Boddicker Nicholas, Polley Eric C, Na Jie, Ambrosone Christine B, Yao Song, Trentham-Dietz Amy, Eliassen A Heather, Penney Kathryn, Brantley Kristen, Bodelon Clara, Teras Lauren R, Hodge James, Patel Alpa, Haiman Christopher A, John Esther M, Neuhausen Susan L, Martinez Elena, Lacey James V, O'Brien Katie M, Sandler Dale P, Weinberg Clarice R, Palmer Julie R, Bertrand Kimberly A, Vachon Celine M, Olson Janet E, Ruddy Kathryn E, Anton-Culver Hoda, Ziogas Argyrios, Goldgar David E, Nathanson Katherine L, Domchek Susan M, Weitzel Jeffrey N, Kraft Peter, Dolinsky Jill S, Pesaran Tina, Richardson Marcy E, Yadav Siddhartha, Couch Fergus J
Abstract excerpt
PURPOSE: To determine the relationship between germline pathogenic variants (PV) in cancer predisposition genes and the risk of ductal carcinoma in situ (DCIS). EXPERIMENTAL DESIGN: Germline PV frequencies in breast cancer predisposition genes (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, RAD51C, and RAD51D) were compared between DCIS cases and unaffected controls and between DCIS and invasive ductal breast...
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