TERT promoter mutations in cancer development

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

doi:10.1016/j.gde.2013.11.005

Cited by 238Telomeres, Telomerase, and SenescenceMelanoma and MAPK PathwaysCancer-related molecular mechanisms research

TERT promoter mutations in cancer development

Heidenreich, Barbara, Rachakonda, P Sivaramakrishna, Hemminki, Kari, Kumar, Rajiv·2014·Current Opinion in Genetics & Development

DOI 10.1016/j.gde.2013.11.005

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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.

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TERT promoter mutations are the most common non-coding mutations in cancer and are found in a growing list of cancers.
“These mutations are the most common mutations in non-coding sequences in cancer and are found in a long, and almost certainly growing, list of cancers153–158.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [153]

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Authors: Heidenreich, B., Rachakonda, P. S., Hemminki, K., & Kumar, R.
Affiliations: German Cancer Research Center (DE)
Corresponding author: Kumar, Rajiv
ORCID: Heidenreich, Barbara
Rachakonda, P Sivaramakrishna
Hemminki, Kari
Kumar, Rajiv
Venue: Current Opinion in Genetics & Development
Publisher: Elsevier BV
Published: 2014-02
Volume: 24
Pages: 30-37
ISSN: 0959-437X (ISSN-L)
DOI: 10.1016/j.gde.2013.11.005
OpenAlex: W2105265620
Cited by: 238
References: 107
Citations by year: 2026: 3 · 2025: 9 · 2024: 10 · 2023: 15 · 2022: 16 · 2021: 20 · 2020: 10 · 2019: 17 · 2018: 23 · 2017: 28 · 2016: 43 · 2015: 30 · 2014: 12 · 2012: 1
FWCI: 3.12
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Current Opinion in Genetics & Development (publishedVersion)
PubMed (publishedVersion)
Lund University Publications (Lund University) (submittedVersion)
Topics: Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
Keywords: TERT promoter mutation, human telomerase reverse transcriptase, telomerase activation, melanoma, somatic mutations, germline mutations, cancer cell immortality, carcinogenesis
MeSH terms: Animals, Humans, Mutation, Neoplasms, Nucleic Acid Conformation, Promoter Regions, Genetic, Telomerase

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