Article
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
Molecular genetics & genomic medicine - 1 Dec 2020
Cannon-Albright Lisa A, Teerlink Craig C, Stevens Jeffrey, Snow Angela K, Thompson Bryony A, Bell Russell, Nguyen Kim N, Sargent Nykole R, Kohlmann Wendy K, Neklason Deborah W, Tavtigian Sean V
Abstract excerpt
PURPOSE: While familial aggregation of colorectal cancer (CRC) is recognized, the majority of the germline predisposition factors remain unidentified, and many high-risk CRC pedigrees remain unexplained by known risk variants. Fanconi Anemia genes have been recognized to be associated with cancer risk. Notably, FANCM (OMIM 609644) variants have been reported to confer risk for CRC and breast cancer. METHODS:...
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