TERT gene: its function and dysregulation in cancer

J Clin Pathol. 2019 Apr;72(4):281-284. doi: 10.1136/jclinpath-2018-205653. Epub 2019 Jan 29.

Abstract

In this review, we summarise the function and structure of telomerase reverse transcriptase (TERT) in humans, including its regulation. The dysregulation of telomerase through TERT promoter mutations across a range of cancers is discussed. The molecular mechanism activated by TERT promoter mutations is outlined. Finally, the timing of TERT promoter mutations during carcinogenesis is reviewed in the context of their potential utility as clinical biomarkers of malignant transformation.

Keywords: cancer; cancer genetics; cancer research.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomarkers, Tumor / genetics*
  • Biomarkers, Tumor / metabolism
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Cell Transformation, Neoplastic / pathology
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Mutation*
  • Neoplasms / enzymology
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Promoter Regions, Genetic*
  • Signal Transduction
  • Telomerase / genetics*
  • Telomerase / metabolism

Substances

  • Biomarkers, Tumor
  • TERT protein, human
  • Telomerase