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碱基切除修复(base excision repair,BER)是DNA损伤修复的重要通路。大量研究文献提示BER通路作为DNA修复机制中重要的通路,其基因的多态性可能是头颈肿瘤诊断、治疗及预后中较重要的预测指标。本文对近年来BER通路修复重要基因(XRCC1和ADPRT)多态性与头颈肿瘤易感性的相关国内外文献进行总结发现,XRCC1的3处常见的单碱基突变可使XRCC1编码的蛋白质功能发生变化,使机体对癌症的易感性发生变化。ADPRT在正常组织中表达下降则提示DNA损伤不能有效地修复,在此基础上增加了基因组的不稳定性和发生突变的频率。此外,BER通路修复基因的多态性与其他头颈肿瘤,如鼻癌、喉癌、甲状腺癌之间的相关性还需进一步研究。
Base excision repair (BER) is an important pathway for DNA damage repair. Numerous studies suggest that BER pathway, as an important pathway in DNA repair mechanism, may be the most important predictor of head cancer diagnosis, treatment and prognosis. In this paper, we summarize the domestic and foreign literatures about BER pathway repair important genes (XRCC1 and ADPRT) polymorphisms and head and neck cancer susceptibility in recent years, and found that three common single-nucleotide mutations in XRCC1 can change the function of XRCC1-encoded proteins , The body’s susceptibility to cancer changes. Decreased expression of ADPRT in normal tissues suggests that DNA damage can not be effectively repaired, and on the basis of this, increased genomic instability and frequency of mutations. In addition, the relationship between the polymorphism of BER pathway repair gene and other head and neck tumors such as nasopharyngeal carcinoma, laryngeal carcinoma and thyroid carcinoma needs further study.