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Genes 2016, 7(7), 38; doi:10.3390/genes7070038

Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications

Department of Pathology, Shandong University School of Medicine, Jinan 250012, China
Department of Medicine, Division of Hematology and Center for Molecular Medicine (CMM), Karolinska Institutet and Karolinska University Hospital Solna, Stockholm SE-171 76, Sweden
Shandong University-Karolinska Institutet Collaborative Laboratory for Cancer Research, and Central Research Laboratory, Shandong University Second Hospital, Jinan 250033, China
Authors to whom correspondence should be addressed.
Academic Editor: Gabriele Saretzki
Received: 29 April 2016 / Revised: 5 July 2016 / Accepted: 11 July 2016 / Published: 18 July 2016
(This article belongs to the Special Issue Telomerase Activity in Human Cells)
View Full-Text   |   Download PDF [1437 KB, uploaded 18 July 2016]   |  


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. View Full-Text
Keywords: cancer; cancer diagnosis; cancer prognosis; telomerase; TERT promoter mutations cancer; cancer diagnosis; cancer prognosis; telomerase; TERT promoter mutations

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Liu, T.; Yuan, X.; Xu, D. Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications. Genes 2016, 7, 38.

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