Please use this identifier to cite or link to this item:
https://hdl.handle.net/10216/110352
Author(s): | Vinagre, J Almeida, A Pópulo, H Batista, R Lyra, J Pinto, V Coelho, R Celestino, R Prazeres, H Lima, L Melo, M Rocha, AG Preto, A Castro, P Castro, L Pardal, F Lopes, JM Santos, LL Reis, RM Cameselle-Teijeiro, JM Sobrinho-Simões, M Lima, J Máximo, V Soares, P |
Title: | Frequency of TERT promoter mutations in human cancers |
Publisher: | Nature Publishing Group |
Issue Date: | 2013 |
Abstract: | Reactivation of telomerase has been implicated in human tumorigenesis, but the underlying mechanisms remain poorly understood. Here we report the presence of recurrent somatic mutations in the TERT promoter in cancers of the central nervous system (43%), bladder (59%), thyroid (follicular cell-derived, 10%) and skin (melanoma, 29%). In thyroid cancers, the presence of TERT promoter mutations (when occurring together with BRAF mutations) is significantly associated with higher TERT mRNA expression, and in glioblastoma we find a trend for increased telomerase expression in cases harbouring TERT promoter mutations. Both in thyroid cancers and glioblastoma, TERT promoter mutations are significantly associated with older age of the patients. Our results show that TERT promoter mutations are relatively frequent in specific types of human cancers, where they lead to enhanced expression of telomerase. |
Subject: | Adolescent Adult Age Factors Aged Aged 80 and over Cell Line, Tumor Cell Transformation Neoplastic/genetics Cell Transformation Neoplastic/pathology Child Female Gene Expression Regulation Neoplastic Humans Male Middle Aged Mutation Rate Neoplasms/genetics Neoplasms/pathology Promoter Regions Genetic Telomerase/genetics |
URI: | http://hdl.handle.net/10216/110352 |
Source: | Nature communications, vol. 4:2185. doi: 10.1038/ncomms3185 |
Related Information: | info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F85249%2F2012/PT info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F81940%2F2011/PT info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F79135%2F2011/PT info:eu-repo/grantAgreement/FCT/5646-ICCMS/83037/PT |
Document Type: | Artigo em Revista Científica Internacional |
Rights: | openAccess |
License: | https://creativecommons.org/licenses/by/4.0/ |
Appears in Collections: | I3S - Artigo em Revista Científica Internacional |
Files in This Item:
File | Description | Size | Format | |
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Vinagre_2013.pdf | 415.3 kB | Adobe PDF | View/Open | |
Vinagre2013SupMat.pdf | 1.06 MB | Adobe PDF | View/Open |
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