DNA mismatch repair proteins: scientific update and practical guide
DNA mismatch repair proteins: scientific update and practical guide
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DOI：
10.1136/jclinpath-2020-207281
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发表时间：
2021-04-01
影响因子：
3.4
通讯作者：
Bateman, Adrian C.
中科院分区：
文献类型：
--
作者：
Bateman, Adrian C.
DNA错配修复(MMR)蛋白对于识别和纠正DNA复制过程中发生的零星基因突变是必不可少的。MMR功能缺陷(DMMR)会增加肿瘤发生的风险。在肿瘤内发现dMMR可提示遗传性癌症条件林奇综合征的可能性很高，并预测对某些传统化疗的临床反应较差，但对免疫治疗的反应增加。本文就MMR蛋白的生物学、编码基因及其在dMMR发生中的作用机制作一综述。然后讨论了dMMR的识别和在常规临床实践中的意义。
DNA mismatch repair (MMR) proteins are essential for the recognition and correction of sporadic genetic mutations that occur during DNA replication. Deficient MMR function (dMMR) leads to an increased risk of development of neoplasia. Identification of dMMR within tumours can suggest a high chance of the inherited cancer condition Lynch syndrome and predicts poor clinical response to certain conventional chemotherapies but an increased likelihood of response to immunotherapy. This review provides an update on the biology of MMR proteins, their encoding genes and mechanisms for the development of dMMR. This is followed by a discussion of the identification and significance of dMMR in routine clinical practice.