TERT是原癌基因，编码蛋白是端粒酶催化亚基，端粒酶是一种维持端粒长度和基因组完整性的酶。TERT的表达量在体细胞中较低或不存在；然而，端粒酶活性在绝大多数肿瘤中上调，并可能有助于癌细胞不死。在多种癌症类型对TERT启动子的测序发现激活突变，包括黑色素瘤、肝细胞癌、尿路上皮癌、髓母细胞瘤和胶质瘤中。TERT C228T和C250T构成了大部分的体细胞TERT启动子变异，其分别发生于TERT基因的ATG起始密码子上游的124和146位碱基处。两处启动子突变都可以为成红细胞转化特异性（ETS）/T细胞因子（TCF）转录因子生成结合基序，并增强端粒酶活性。除了启动子突变之外，位于5p染色体上的TERT在许多癌症类型中扩增。

TERT is an enzyme that functions to maintain telomere length and genomic stability. The TERT promoter is frequently mutated in various cancer types.The TERT gene encodes the catalytic subunit of telomerase, an enzyme that maintains telomere length and genomic integrity. TERT expression is low or absent in somatic cells; however, telomerase activity is upregulated in a vast majority of tumors and likely contributes to cancer cell immortality. Sequencing of the TERT promoter identified activating mutations in a number of cancer types including melanoma, hepatocellular carcinoma, urothelial carcinoma, medulloblastoma and glioma. Tumors with highly recurrent TERT promoter mutations tend to originate from tissues with lower rates of self-renewal. TERT promoter mutations, C228T and C250T, account for the majority of the somatic TERT promoter alterations and occur 124 and 146 base pairs upstream of the ATG start codon of TERT, respectively. Both promoter mutations create binding motifs for erythroblast transformation-specific (ETS)/ T-cell factor (TCF) transcription factors and enhance telomerase activity. In addition to promoter mutations, TERT, located on chromosome 5p, is amplified across many cancer types.

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