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Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.

Heidenreich, Barbara; Nagore, Eduardo; Rachakonda, P Sivaramakrishna; Garcia-Casado, Zaida; Requena, Celia; Traves, Victor; Becker, Jürgen; Soufir, Nadem; Hemminki, Kari LU and Kumar, Rajiv (2014) In Nature Communications 5(Feb 26).
Abstract
We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and tumour ulceration in 287 primary melanomas. The mutations are more frequent at both intermittently and chronically sun-exposed sites than non-exposed sites and tend to co-occur with BRAF and CDKN2A alterations. The association with parameters generally connected with poor outcome, coupled with high recurrence and mechanistic... (More)
We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and tumour ulceration in 287 primary melanomas. The mutations are more frequent at both intermittently and chronically sun-exposed sites than non-exposed sites and tend to co-occur with BRAF and CDKN2A alterations. The association with parameters generally connected with poor outcome, coupled with high recurrence and mechanistic relevance, raises the possibility of the eventual use of TERT promoter mutations in the disease management. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
5
issue
Feb 26
publisher
Nature Publishing Group
external identifiers
  • pmid:24569790
  • wos:000332671500001
  • scopus:84905974901
ISSN
2041-1723
DOI
10.1038/ncomms4401
language
English
LU publication?
yes
id
f1104666-adae-442d-b7d8-949cea3ad395 (old id 4333958)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24569790?dopt=Abstract
date added to LUP
2014-03-05 18:49:13
date last changed
2017-10-29 04:02:43
@article{f1104666-adae-442d-b7d8-949cea3ad395,
  abstract     = {We previously reported a disease segregating causal germline mutation in a melanoma family and recurrent somatic mutations in metastasized tumours from unrelated patients in the core promoter region of the telomerase reverse transcriptase (TERT) gene. Here we show that the TERT promoter mutations, besides causing an increased gene expression, associate with increased patient age, increased Breslow thickness and tumour ulceration in 287 primary melanomas. The mutations are more frequent at both intermittently and chronically sun-exposed sites than non-exposed sites and tend to co-occur with BRAF and CDKN2A alterations. The association with parameters generally connected with poor outcome, coupled with high recurrence and mechanistic relevance, raises the possibility of the eventual use of TERT promoter mutations in the disease management.},
  articleno    = {3401},
  author       = {Heidenreich, Barbara and Nagore, Eduardo and Rachakonda, P Sivaramakrishna and Garcia-Casado, Zaida and Requena, Celia and Traves, Victor and Becker, Jürgen and Soufir, Nadem and Hemminki, Kari and Kumar, Rajiv},
  issn         = {2041-1723},
  language     = {eng},
  number       = {Feb 26},
  publisher    = {Nature Publishing Group},
  series       = {Nature Communications},
  title        = {Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.},
  url          = {http://dx.doi.org/10.1038/ncomms4401},
  volume       = {5},
  year         = {2014},
}