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dc.contributor.authorVinagre, J.
dc.contributor.authorAlmeida, A.
dc.contributor.authorPópulo, H.
dc.contributor.authorBatista, R.
dc.contributor.authorLyra, J.
dc.contributor.authorPinto, V.
dc.contributor.authorCoelho, R.
dc.contributor.authorCelestino, R.
dc.contributor.authorPrazeres, H.
dc.contributor.authorLima, L.
dc.contributor.authorMelo, M.
dc.contributor.authorRocha, A. G. D.
dc.contributor.authorPreto, A.
dc.contributor.authorCastro, P.
dc.contributor.authorCastro, L.
dc.contributor.authorPardal, F.
dc.contributor.authorLopes, J. M.
dc.contributor.authorSantos, L. L.
dc.contributor.authorReis, R. M.
dc.contributor.authorCameselle Teijeiro, Jose Manuel 
dc.contributor.authorSobrinho-Simões, M.
dc.contributor.authorLima, J.
dc.contributor.authorMáximo, V.
dc.contributor.authorSoares, P.
dc.date.accessioned2017-06-07T07:12:12Z
dc.date.available2017-06-07T07:12:12Z
dc.date.issued2013
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/20.500.11940/3781
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.
dc.language.isoeng
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAge Factors
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshCell Line, Tumor
dc.subject.meshCell Transformation, Neoplastic
dc.subject.meshChild
dc.subject.meshFemale
dc.subject.meshGene Expression Regulation, Neoplastic
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMutation Rate
dc.subject.meshNeoplasms
dc.subject.meshPromoter Regions, Genetic
dc.subject.meshTelomerase
dc.titleFrequency of TERT promoter mutations in human cancers
dc.typeArtigoes
dc.authorsophosVinagre, J.
dc.authorsophosAlmeida, A.
dc.authorsophosPópulo, H.
dc.authorsophosBatista, R.
dc.authorsophosLyra, J.
dc.authorsophosPinto, V.
dc.authorsophosCoelho, R.
dc.authorsophosCelestino, R.
dc.authorsophosPrazeres, H.
dc.authorsophosLima, L.
dc.authorsophosMelo, M.
dc.authorsophosRocha, A. G. D.
dc.authorsophosPreto, A.
dc.authorsophosCastro, P.
dc.authorsophosCastro, L.
dc.authorsophosPardal, F.
dc.authorsophosLopes, J. M.
dc.authorsophosSantos, L. L.
dc.authorsophosReis, R. M.
dc.authorsophosCameselle-Teijeiro, J.
dc.authorsophosSobrinho-Simões, M.
dc.authorsophosLima, J.
dc.authorsophosMáximo, V.
dc.authorsophosSoares, P.
dc.identifier.doi10.1038/ncomms3185
dc.identifier.isi323716600021
dc.identifier.pmid23887589
dc.identifier.sophos13584
dc.journal.titleNature Communications
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Anatomía Patolóxica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago::IDIS.- Instituto de investigaciones sanitarias de Santiago
dc.relation.publisherversionhttps://www.nature.com/articles/ncomms3185.pdf
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number4


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