期刊
GENES
卷 7, 期 7, 页码 -出版社
MDPI AG
DOI: 10.3390/genes7070038
关键词
cancer; cancer diagnosis; cancer prognosis; telomerase; TERT promoter mutations
资金
- National Basic Research Program of China (973 Program) [2012CB911202]
- National Natural Science Foundation of China [81502409]
- Swedish Cancer Society
- Swedish Research Council
- Cancer Society in Stockholm
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.
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