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TERT promoter mutations in cancer development.

Heidenreich, Barbara; Rachakonda, P Sivaramakrishna; Hemminki, Kari LU and Kumar, Rajiv (2014) In Current Opinion in Genetics & Development 24(Dec 20). p.30-37
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Current Opinion in Genetics & Development
volume
24
issue
Dec 20
pages
30 - 37
publisher
Elsevier
external identifiers
  • pmid:24657534
  • wos:000335806900006
  • scopus:84890636883
ISSN
1879-0380
DOI
10.1016/j.gde.2013.11.005
language
English
LU publication?
yes
id
61594a76-2486-4d75-aff1-e66dff6a1102 (old id 4379907)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24657534?dopt=Abstract
date added to LUP
2014-04-03 21:04:14
date last changed
2017-11-05 03:14:06
@article{61594a76-2486-4d75-aff1-e66dff6a1102,
  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.},
  author       = {Heidenreich, Barbara and Rachakonda, P Sivaramakrishna and Hemminki, Kari and Kumar, Rajiv},
  issn         = {1879-0380},
  language     = {eng},
  number       = {Dec 20},
  pages        = {30--37},
  publisher    = {Elsevier},
  series       = {Current Opinion in Genetics & Development},
  title        = {TERT promoter mutations in cancer development.},
  url          = {http://dx.doi.org/10.1016/j.gde.2013.11.005},
  volume       = {24},
  year         = {2014},
}