错配修复基因与结直肠癌

Mismatch repair genes and colorectal cancer

DNA错配修复(mismatch repair, MMR)系统的功能是识别和纠正错配碱基对及阻止一些小的核苷酸的插入/缺失突变,以达到维持基因的稳定性、完整性和复制的高保真性。一旦MMR系统功能缺陷或MMR基因发生突变将会导致肿瘤形成,尤其与结直肠癌的发生发展密切相关。本文对MMR基因的修复机制及其与结直肠癌之间的关系进行归纳、总结,期待为临床诊治提供更好的理论依据。

The functions of the DNA mismatch repair （MMR） system is to identify and correct mismatched base pairs and to prevent insertion or deletion mutation in some small nucleotides in order to maintain the stability, integrity, and high fidelity replication of the genes. Once the MMR system is defective or the MMR gene is mutated, it will lead to tumor formation, for instance, the occurrence and development of colorectal cancer （CRC）. In this paper, the mechanism of mismatch repair genes, and its relationship with CRC were discussed, which hopefully will serve as a theoretical basis for clinical diagnosis and therapy of CRC.