title: Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications.
abstract: 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.
authors.affiliation: Department of Pathology, Shandong University School of Medicine, Jinan 250012, China. liu.tiantian@sdu.edu.cn.
authors.forename: Tiantian
authors.initials: T
authors.lastname: Liu
authors.affiliation: Department of Medicine, Division of Hematology and Center for Molecular Medicine (CMM), Karolinska Institutet and Karolinska University Hospital Solna, Stockholm SE-171 76, Sweden. xiaotian.yan@ki.se.
authors.forename: Xiaotian
authors.initials: X
authors.lastname: Yuan
authors.affiliation: Department of Medicine, Division of Hematology and Center for Molecular Medicine (CMM), Karolinska Institutet and Karolinska University Hospital Solna, Stockholm SE-171 76, Sweden. Dawei.Xu@ki.se.|Shandong University-Karolinska Institutet Collaborative Laboratory for Cancer Research, and Central Research Laboratory, Shandong University Second Hospital, Jinan 250033, China. Dawei.Xu@ki.se.
authors.forename: Dawei
authors.initials: D
authors.lastname: Xu
keywords: TERT promoter mutations; cancer; cancer diagnosis; cancer prognosis; telomerase