POLE为DNA聚合酶ε的催化亚基，具有5'→3'DNA聚合酶活性和3'→5'核酸外切酶活性，对DNA复制 和校正具有重要作用。POLE突变将引起校正功能缺失，可能导致肿瘤发生。近年来，TCGA在多 种肿瘤中检出POLE突变，POLE突变的肿瘤以其独特超强突变分子表型及良好的预后成为近期研 究热点。本文综述POLE的结构、功能及其突变在肿瘤发生发展中的作用的研究进展。
Role of POLE mutations in the occurrence and development of tumors
POLE is the catalytic subunit of DNA polymerase ε which has 5'-3' DNA polymeriztion and 3'-5' proofreading exonulease activities, so it plays an important role in DNA replication and proofreading. POLE mutations would cause deficiency of proofreading activity which may leads to tumor occurrence. In recent years, the Cancer Genome Atlas (TCGA) reported multiple human tumors that associated with POLE mutations. For its unique molecular phenotype and favorable prognosis, research on POLE mutations tumors has become a hot focus. In this paper, studies on structure and function of POLE, and the role of POLE mutations in the tumor occurrence are reviewed.