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TERT promoter mutations in pancreatic endocrine tumours are rare and mainly found in tumours from patients with hereditary syndromes

2016-07-14Journal article Open access
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dc.contributor.authorVinagre, João
dc.contributor.authorNabais, Joana
dc.contributor.authorPinheiro, Jorge
dc.contributor.authorBatista, Rui
dc.contributor.authorOliveira, Rui Caetano
dc.contributor.authorGonçalves, António Pedro
dc.contributor.authorPestana, Ana
dc.contributor.authorReis, Marta
dc.contributor.authorMesquita, Bárbara
dc.contributor.authorPinto, Vasco
dc.contributor.authorLyra, Joana
dc.contributor.authorCipriano, Maria Augusta
dc.contributor.authorFerreira, Miguel Godinho
dc.contributor.authorLopes, José Manuel
dc.contributor.authorSobrinho-Simões, Manuel
dc.contributor.authorSoares, Paula
dc.date.accessioned2016-07-20T15:15:02Z
dc.date.available2016-07-20T15:15:02Z
dc.date.issued2016-07-14
dc.description.abstractOne of the hallmarks of cancer is its unlimited replicative potential that needs a compensatory mechanism for the consequential telomere erosion. Telomerase promoter (TERTp) mutations were recently reported as a novel mechanism for telomerase re-activation/expression in order to maintain telomere length. Pancreatic endocrine tumors (PETs) were so far recognized to rely mainly on the alternative lengthening of telomeres (ALT) mechanism. It was our objective to study if TERTp mutations were present in pancreatic endocrine tumors (PET) and could represent an alternative mechanism to ALT. TERTp mutations were detected in 7% of the cases studied and were mainly associated to patients harbouring hereditary syndromes. In vitro, using PET-derived cell lines and by luciferase reporter assay, these mutations confer a 2 to 4-fold increase in telomerase transcription activity. These novel alterations are able to recruit ETS transcription factor members, in particular GABP-α and ETV1, to the newly generated binding sites. We report for the first time TERTp mutations in PETs and PET-derived cell lines. Additionally, our data indicate that these mutations serve as an alternative mechanism and in an exclusive manner to ALT, in particular in patients with hereditary syndromes.pt_PT
dc.description.sponsorshipFundação para a Ciência e a Tecnologia; Norte 2020 – Programa Operacional Regional do Norte project: (“Advancing cancer research: from basic knowledgment to application” - grant: NORTE-01-0145-FEDER-000029); Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education: (I3S).pt_PT
dc.identifier.citationVinagre, J. et al. TERT promoter mutations in pancreatic endocrine tumours are rare and mainly found in tumours from patients with hereditary syndromes. Sci. Rep. 6, 29714; doi: 10.1038/ srep29714 (2016).pt_PT
dc.identifier.doi10.1038/srep29714pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.7/681
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.relationUNRAVELLING THE GENETICS OF NEUROENDOCRINE TUMORS
dc.relation.publisherversionhttp://www.nature.com/articles/srep29714pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectNeuroendocrine cancerpt_PT
dc.subjectTelomerespt_PT
dc.titleTERT promoter mutations in pancreatic endocrine tumours are rare and mainly found in tumours from patients with hereditary syndromespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleUNRAVELLING THE GENETICS OF NEUROENDOCRINE TUMORS
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBD%2F81940%2F2011/PT
oaire.citation.endPage9pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleScientific Reportspt_PT
oaire.citation.volume6pt_PT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication6ca4a27f-fd18-4a52-afad-72ebd248870b
relation.isProjectOfPublication.latestForDiscovery6ca4a27f-fd18-4a52-afad-72ebd248870b

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