TERT promoter mutations in cancer development.

Barbara Heidenreich, P Sivaramakrishna Rachakonda, Kari Hemminki, Rajiv Kumar

Research output: Contribution to journalArticlepeer-review

159 Citations (SciVal)


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.
Original languageEnglish
Pages (from-to)30-37
JournalCurrent Opinion in Genetics & Development
Issue numberDec 20
Publication statusPublished - 2014

Subject classification (UKÄ)

  • Medical Genetics


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