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Frequency of TERT promoter mutations in human cancers

2013Journal article Open access
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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
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
dc.contributor.authorReis, Rui Manuel
dc.contributor.authorCameselle-Teijeiro, José
dc.contributor.authorSobrinho-Simões, Manuel
dc.contributor.authorLima, Jorge
dc.contributor.authorMáximo, Valdemar
dc.contributor.authorSoares, Paula
dc.date.accessioned2014-01-02T18:31:25Z
dc.date.available2014-01-02T18:31:25Z
dc.date.issued2013
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.identifier.doi10.1038/ncomms3185pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.22/3182
dc.language.isoeng
dc.peerreviewedyespor
dc.publisherMacmillan Publishers Limited
dc.relation.ispartofseriesNature Communications; Vol. 4, Nº 2185
dc.relation.publisherversionhttp://www.nature.com/ncomms/2013/130726/ncomms3185/full/ncomms3185.html
dc.titleFrequency of TERT promoter mutations in human cancerspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issueNº 2185
oaire.citation.titleNature Communicationspor
oaire.citation.volumeVol. 4
person.familyNameCelestino
person.familyNameOliveira Lima
person.givenNameRicardo
person.givenNameLuís Carlos
person.identifier154697
person.identifier.ciencia-id301A-7536-FFE2
person.identifier.ciencia-id9F16-0E29-D9FC
person.identifier.orcid0000-0002-9605-6433
person.identifier.orcid0000-0001-8152-9237
person.identifier.ridJ-6048-2013
person.identifier.scopus-author-id57195924601
person.identifier.scopus-author-id23501978900
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication46a9688a-c1bc-4e3d-a293-86f9b2c03058
relation.isAuthorOfPublicationc6b00c1f-f4c9-4f4f-b291-17cf30b1e1f8
relation.isAuthorOfPublication.latestForDiscoveryc6b00c1f-f4c9-4f4f-b291-17cf30b1e1f8

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