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TitleFrequency of TERT promoter mutations in human cancers
Author(s)Vinagre, João
Almeida, Ana
Pópulo, Helena
Batista, Rui
Lyra, Joana
Pinto, Vasco
Coelho, Ricardo
Celestino, Ricardo
Prazeres, Hugo
Lima, Luís
Melo, Miguel
Rocha, Adriana Gaspar da
Preto, Ana
Castro, Patrícia
Castro, Ligia
Pardal, Fernando
Lopes, José Manuel
Santos Lúcio, Lara
Reis, R. M.
Cameselle-Teijeiro, José
Sobrinho-Simões, Manuel
Lima, Jorge
Máximo, Valdemar
Soares, Paula
Issue date9-Jul-2013
PublisherPalgrave Macmillan
JournalNature communications
Abstract(s)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.
Publisher version
AccessOpen access
Appears in Collections:DBio - Artigos/Papers
ICVS - Artigos em Revistas Internacionais com Referee

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