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POLE/POLD1突变与肿瘤免疫治疗研究进展
引用本文:麦宗炯,蒲恒颖,王峰.POLE/POLD1突变与肿瘤免疫治疗研究进展[J].科技导报(北京),2021,39(7):38-47.
作者姓名:麦宗炯  蒲恒颖  王峰
作者单位:中山大学肿瘤防治中心肿瘤内科, 华南肿瘤学国家重点实验室, 肿瘤医学协同创新中心, 广州 510060
基金项目:中山大学临床医学研究5010计划项目(2018014)
摘    要: 阐述了DNA聚合酶ε(polymerase epsilon,POLE)和DNA聚合酶delta 1(polymerase delta 1,POLD1)基因编码的亚基参与DNA复制和校对,总结了POLE/POLD1突变对肿瘤突变负荷以及肿瘤内免疫细胞浸润的影响,综述了POLE/POLD1突变在子宫内膜癌、结直肠癌、肺癌中的研究进展,并讨论了POLE/POLD1突变作为潜在的免疫检查点抑制剂疗效预测分子标志物面临的诸多挑战。

关 键 词:POLE  POLD1  基因突变  免疫治疗  分子标志物  
收稿时间:2020-07-21

Advances in research of POLE/POLD1 mutations in cancer immunotherapy
MAI Zongjiong,PU Hengying,WANG Feng.Advances in research of POLE/POLD1 mutations in cancer immunotherapy[J].Science & Technology Review,2021,39(7):38-47.
Authors:MAI Zongjiong  PU Hengying  WANG Feng
Institution:Department of Medical Oncology, Sun Yat-sen University Cancer Center; State Key Laboratory of Oncology in South China; Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, China
Abstract:This article expounds the involvement of subunits encoded by DNA polymerase (POLE) and DNA polymerase delta 1 (POLD1) in DNA replication and proofreading, summarizes the effects of POLE/POLD1 mutations on tumor mutation load and intratumoral immune cell infiltration, and reviews the research progress of POLE/POLD1 mutations in immunotherapy of endometrial cancer, colorectal cancer and lung cancer. This article also discusses the challenges faced by POLE/POLD1 mutations as potential molecular markers for the predicting efficacy of immune checkpoint inhibitors.
Keywords:POLE  POLD1  mutation  immunotherapy  biomarker  
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