Frequency of TERT promoter mutations in human cancers

Vinagre, J.; Almeida, A.; Pópulo, H.; Batista, R.; Lyra, J.; Pinto, V.; Coelho, R.; Celestino, R.; Prazeres, H.; Lima, L.; Melo, M.; Rocha, A. G. D.; Preto, A.; Castro, P.; Castro, L.; Pardal, F.; Lopes, J. M.; Santos, L. L.; Reis, R. M.; Cameselle Teijeiro, Jose Manuel; Sobrinho-Simões, M.; Lima, J.; Máximo, V.; Soares, P.
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URI: http://hdl.handle.net/20.500.11940/3781
PMID: 23887589
ISSN: 2041-1723
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Date issued
2013
Journal title
Nature Communications
Type of content
Artigo
MeSH
Adolescent | Adult | Age Factors | Aged | Aged, 80 and over | Cell Line, Tumor | Cell Transformation, Neoplastic | Child | Female | Gene Expression Regulation, Neoplastic | Humans | Male | Middle Aged | Mutation Rate | Neoplasms | Promoter Regions, Genetic | Telomerase
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.