Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK
J Clin Pathol. 2021 Apr;74(4):264-268. doi: 10.1136/jclinpath-2020-207281. Epub 2021 Feb 17.
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.
DNA 错配修复 (MMR) 蛋白对于识别和纠正 DNA 复制过程中发生的散发性遗传突变至关重要。MMR 功能缺陷 (dMMR) 会导致肿瘤发生风险增加。肿瘤内 dMMR 的鉴定可以提示遗传性癌症林奇综合征的高发生几率，并预测对某些常规化疗药物的临床反应不佳，但对免疫治疗的反应增加的可能性。本文综述了 MMR 蛋白的生物学、其编码基因以及 dMMR 发生的机制。接着讨论了在常规临床实践中鉴定和评估 dMMR 的意义。
