TERT promoter mutations in cancer development

Curr Opin Genet Dev. 2014 Feb;24:30-7. doi: 10.1016/j.gde.2013.11.005. Epub 2013 Dec 20.

Abstract

Human telomerase reverse transcriptase (TERT) encodes a rate-limiting catalytic subunit of telomerase that maintains genomic integrity. TERT expression is mostly repressed in somatic cells with exception of proliferative cells in self-renewing tissues and cancer. Immortality associated with cancer cells has been attributed to telomerase over-expression. The precise mechanism behind the TERT activation in cancers has mostly remained unknown. The newly described germline and recurrent somatic mutations in melanoma and other cancers in the TERT promoter that create de novo E-twenty six/ternary complex factors (Ets/TCF) binding sites, provide an insight into the possible cause of tumor-specific increased TERT expression. In this review we discuss the discovery and possible implications of the TERT promoter mutations in melanoma and other cancers.

Publication types

  • Review

MeSH terms

  • Animals
  • Humans
  • Mutation*
  • Neoplasms / genetics*
  • Neoplasms / therapy
  • Nucleic Acid Conformation
  • Promoter Regions, Genetic*
  • Telomerase / chemistry
  • Telomerase / genetics*
  • Telomerase / metabolism

Substances

  • TERT protein, human
  • Telomerase