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散发性结直肠癌发生过程中DNA修复途径的基因多态性

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

作者信息

Liu Jingwei, Zheng Bowen, Li Ying, Yuan Yuan, Xing Chengzhong

机构信息

Tumor Etiology and Screening Department of Cancer Institute and General Surgery, the First Hospital of China Medical University, and Key Laboratory of Cancer Etiology and Prevention (China Medical University), Liaoning Provincial Education Department, Shenyang 110001, China.

出版信息

J Cancer. 2019 Feb 23;10(6):1417-1433. doi: 10.7150/jca.28406. eCollection 2019.

Abstract

DNA repair systems play a critical role in maintaining the integrity and stability of the genome, which mainly include base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR) and double-strand break repair (DSBR). The polymorphisms in different DNA repair genes that are mainly represented by single-nucleotide polymorphisms (SNPs) can potentially modulate the individual DNA repair capacity and therefore exert an impact on individual genetic susceptibility to cancer. Sporadic colorectal cancer arises from the colorectum without known contribution from germline causes or significant family history of cancer or inflammatory bowel disease. In recent years, emerging studies have investigated the association between polymorphisms of DNA repair system genes and sporadic CRC. Here, we review recent insights into the polymorphisms of DNA repair pathway genes, not only individual gene polymorphism but also gene-gene and gene-environment interactions, in sporadic colorectal carcinogenesis.

摘要

DNA修复系统在维持基因组的完整性和稳定性方面发挥着关键作用,主要包括碱基切除修复(BER)、核苷酸切除修复(NER)、错配修复(MMR)和双链断裂修复(DSBR)。不同DNA修复基因中的多态性主要以单核苷酸多态性(SNP)为代表,可能会调节个体的DNA修复能力,从而对个体患癌的遗传易感性产生影响。散发性结直肠癌起源于结肠直肠,没有已知的种系原因、明显的癌症家族史或炎症性肠病的影响。近年来,越来越多的研究调查了DNA修复系统基因多态性与散发性结直肠癌之间的关联。在此,我们综述了散发性结直肠癌发生过程中DNA修复途径基因多态性的最新见解,不仅包括单个基因多态性,还包括基因-基因和基因-环境相互作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5580/6485219/50117e609d0e/jcav10p1417g001.jpg

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