2016
DOI: 10.3390/genes7070038
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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 p… Show more

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Cited by 130 publications
(176 citation statements)
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References 154 publications
(244 reference statements)
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“…The distribution and pattern of TERT promoter mutations together with mutations in IDH1/IDH2 and deletions at chromosomes 1p/19q in gliomas follow histological subgroup classification with distinct survival patterns . Additional cancers with frequent TERT promoter mutations include bladder cancer, thyroid cancers, heptatocellular carcinoma, and others . The TERT promoter mutations have been described as a switch between adenomas and carcinomas of liver; those also associate with poor disease free and overall survival .…”
Section: Distribution and Impact Of Noncoding Mutationssupporting
confidence: 75%
“…The distribution and pattern of TERT promoter mutations together with mutations in IDH1/IDH2 and deletions at chromosomes 1p/19q in gliomas follow histological subgroup classification with distinct survival patterns . Additional cancers with frequent TERT promoter mutations include bladder cancer, thyroid cancers, heptatocellular carcinoma, and others . The TERT promoter mutations have been described as a switch between adenomas and carcinomas of liver; those also associate with poor disease free and overall survival .…”
Section: Distribution and Impact Of Noncoding Mutationssupporting
confidence: 75%
“…TERT is an important anti‐tumour therapeutic target because it is not expressed in most normal human cells. TERT activates telomerase, which stabilizes telomere length, thereby immortalizing cancer cells (Liu et al, ). Zhao et al () found that miR‐138‐5p decreased PD‐L1 expression and suppressed CRC cell growth dramatically in vitro, and also inhibited tumourigenesis in vivo.…”
Section: Discussionmentioning
confidence: 99%
“…The GABPA binding leads to opened chromatin at the TERT proximal promoter, thereby aberrantly activating TERT transcription and telomerase [39]. Consistently, higher levels of TERT mRNA and telomerase activity were frequently observed in tumors carrying TERT promoter mutations compared with those having a wt promoter [8, 18, 40, 41]. On the other hand, the rs2736100_CC genotype has also been shown to promote TERT transcription and to maintain telomere length much more strongly than its AA and AC variants [17, 34]; whereas tumors with shorter telomere are prone to undergo TERT promoter mutations [42].…”
Section: Discussionmentioning
confidence: 99%