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FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-10-29 , DOI: 10.1002/mgg3.1532
Lisa A Cannon-Albright 1, 2 , Craig C Teerlink 1 , Jeffrey Stevens 1 , Angela K Snow 2 , Bryony A Thompson 2, 3 , Russell Bell 2 , Kim N Nguyen 1 , Nykole R Sargent 2 , Wendy K Kohlmann 2 , Deborah W Neklason 1, 2 , Sean V Tavtigian 2, 4
Affiliation  

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.

中文翻译:

FANCM c5791C>T stopgain 突变 (rs144567652) 是家族性结直肠癌危险因素

虽然结直肠癌 (CRC) 的家族聚集性已得到认可,但大多数种系易感因素仍未确定,并且许多高风险 CRC 谱系仍无法用已知的风险变异来解释。范可尼贫血基因已被认为与癌症风险相关。值得注意的是,据报道FANCM (OMIM 609644) 变体会带来罹患 CRC 和乳腺癌的风险。
更新日期:2020-12-27
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