错配修复系统hMutS、hMutL的变异与结直肠癌的相关性研究进展

Cancer Research on Prevention and Treatment(2016)

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Abstract
DNA错配修复系统(mismatch repair system,MMR)是重要的复制后修复机制,修复各种类型的碱基错配和插入/缺失环.hMutS、hMutL是MMR中重要的两个子系统,它们的功能缺陷与多种肿瘤,尤其结直肠癌密切相关.hMutS、hMutL系统关键基因SNPs、启动子甲基化水平的变化,都会直接或间接影响MMR的功能,以及由此引起微卫星不稳定性增加,进而影响结直肠癌的发生、发展和预后.本文主要从hMutS、hMutL系统关键基因的SNPs、启动子甲基化和微卫星不稳定三个方面综述了hMutS、hMutL系统关键基因变异与结直肠癌相关性研究的进展.
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Key words
hMutS,hMutL,Colorectal cancer,SNPs,Promoter methylation,Microsatellite instability
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