Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4333958
- author
- Heidenreich, Barbara ; Nagore, Eduardo ; Rachakonda, P Sivaramakrishna ; Garcia-Casado, Zaida ; Requena, Celia ; Traves, Victor ; Becker, Jürgen ; Soufir, Nadem ; Hemminki, Kari LU and Kumar, Rajiv
- organization
- publishing date
- 2014
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Communications
- volume
- 5
- issue
- Feb 26
- article number
- 3401
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:24569790
- wos:000332671500001
- scopus:84905974901
- pmid:24569790
- 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
- 2016-04-01 14:35:58
- date last changed
- 2022-04-14 18:39:28
@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.}}, 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}}, doi = {{10.1038/ncomms4401}}, volume = {{5}}, year = {{2014}}, }