标题：Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications
作者：Liu, Tiantian; Yuan, Xiaotian; Xu, Dawei
作者机构：[Liu, Tiantian] Shandong Univ, Dept Pathol, Sch Med, Jinan 250012, Peoples R China.; [Yuan, Xiaotian; Xu, Dawei] Karolinska Inst, Dept Med, Div Hema 更多
通讯作者：Liu, TT;Xu, DW;Xu, DW;Xu, DW;Xu, DW;Xu, DW
通讯作者地址：[Liu, TT]Shandong Univ, Dept Pathol, Sch Med, Jinan 250012, Peoples R China;[Xu, DW]Karolinska Inst, Dept Med, Div Hematol, SE-17176 Stockholm, Sweden 更多
关键词：cancer; cancer diagnosis; cancer prognosis; telomerase; TERT promoter; mutations
摘要：The accumulated evidence has pointed to a key role of telomerase in carcinogenesis. As a RNA-dependent DNA polymerase, telomerase synthesizes telomeric DNA at the end of linear chromosomes, and attenuates or prevents telomere erosion associated with cell divisions. By lengthening telomeres, telomerase extends cellular life-span or even induces immortalization. Consistent with its functional activity, telomerase is silent in most human normal somatic cells while active only in germ-line, stem and other highly proliferative cells. In contrast, telomerase activation widely occurs in human cancer and the enzymatic activity is detectable in up to 90% of malignancies. Recently, hotspot point mutations in the regulatory region of the telomerase reverse transcriptase (TERT) gene, encoding the core catalytic component of telomerase, was identified as a novel mechanism to activate telomerase in cancer. This review discusses the cancer-specific TERT promoter mutations and potential biological and clinical significances.