TERT promoter mutations

TERT promoter mutations affect the TERT promoter (located on the short arm of chromosome 5) which encodes for the hTERT component of telomerase, an enzyme which maintains and lengthens telomeres 1. Mutations that result in enhanced activity of telomerase, and therefore longer telomeres, can be is seen in over 50 different cancers throughout the body, including diffuse gliomas, follicular carcinomas of the thyroid, malignant melanoma, bladder transitional cell carcinoma, and hepatocellular carcinoma 2,3

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rID: 52458
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