Please use this identifier to cite or link to this item: http://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 da
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

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