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dc.contributor.authorVinagre, João-
dc.contributor.authorAlmeida, Ana-
dc.contributor.authorPópulo, Helena-
dc.contributor.authorBatista, Rui-
dc.contributor.authorLyra, Joana-
dc.contributor.authorPinto, Vasco-
dc.contributor.authorCoelho, Ricardo-
dc.contributor.authorCelestino, Ricardo-
dc.contributor.authorPrazeres, Hugo-
dc.contributor.authorLima, Luís-
dc.contributor.authorMelo, Miguel-
dc.contributor.authorRocha, Adriana Gaspar da-
dc.contributor.authorPreto, Ana-
dc.contributor.authorCastro, Patrícia-
dc.contributor.authorCastro, Ligia-
dc.contributor.authorPardal, Fernando-
dc.contributor.authorLopes, José Manuel-
dc.contributor.authorSantos Lúcio, Lara-
dc.contributor.authorReis, R. M.-
dc.contributor.authorCameselle-Teijeiro, José-
dc.contributor.authorSobrinho-Simões, Manuel-
dc.contributor.authorLima, Jorge-
dc.contributor.authorMáximo, Valdemar-
dc.contributor.authorSoares, Paula-
dc.description.abstractReactivation 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.por
dc.description.sponsorshipWe thank to Mrs Mafalda Rocha for the excellent technical support in the sequencing work. This work was partially supported by the Portuguese Science and Technology Foundation (FCT) through BPD (SFRH/BPD/85249/2012 to H. P.), PhD (SFRH/BD/81940/2011 to J.V. and SFRH/BD/79135/2011 to A. A.) and BI grants, and the grant through the Program Ciencia 2008 (J.L.) and the project (PIC/IC/83037/2007). Further funding was obtained from the project 'Microenvironment, metabolism and cancer' partially supported by Programa Operacional Regional do Norte (ON.2-O Novo Norte), under the Quadro de Referencia Estrategico Nacional (QREN), and through the Fundo Europeu de Desenvolvimento Regional (FEDER). IPATIMUP is an associate laboratory of the Portuguese Ministry of Science, Technology and Higher Education and is partially supported by the FCT.por
dc.publisherPalgrave Macmillanpor
dc.titleFrequency of TERT promoter mutations in human cancerspor
oaire.citationTitleNature communicationspor
dc.subject.wosScience & Technologypor
sdum.journalNature communicationspor
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ICVS - Artigos em Revistas Internacionais com Referee

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