Skip Main Navigation Links Jump to Footer

Scopus Preview

Nature CommunicationsVolume 4, 2013, Article number 3185

Frequency of TERT promoter mutations in human cancers(Article)(Open Access)

  • Vinagre, J.,
  • Almeida, A.,
  • Pópulo, H.,
  • Batista, R.,
  • Lyra, J.,
  • Pinto, V.,
  • Coelho, R.,
  • Celestino, R.,
  • Prazeres, H.,
  • Lima, L.,
  • Melo, M.,
  • Rocha, A.G.D.,
  • Preto, A.,
  • Castro, P.,
  • Castro, L.,
  • Pardal, F.,
  • Lopes, J.M.,
  • Santos, L.L.,
  • Reis, R.M.,
  • Cameselle-Teijeiro, J.,
  • Sobrinho-Simões, M.,
  • Lima, J.,
  • Máximo, V.,
  • Soares, P.
  • View Correspondence (jump link)
  • aInstitute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), 4200-465 Porto, Portugal
  • bInstitute of Biomedical Sciences of Abel Salazar, University of Porto, 4050-313 Porto, Portugal
  • cMedical Faculty, University of Porto, 4200-319 Porto, Portugal
  • dPortuguese Institute of Oncology-Coimbra Centre (IPOFG, EPE), 3000-075 Coimbra, Portugal
  • eExperimental Pathology and Therapeutics Group, Portuguese Institute of Oncology, 4200-072 Porto
  • fNucleo de Investigação em Farmácia, Centro de Investigaçãoem Saúde e Ambiente (CISA), Health School of the Polytechnic Institute of Porto, 4400-330 Vila Nova de Gaia, Portugal
  • gResearch Department, Portuguese League Against Cancer (Norte), 4200-177 Porto, Portugal
  • hDepartment of Endocrinology, Diabetes and Metabolism, University Hospital of Coimbra, 3000-075 Coimbra, Portugal
  • iUnit of Endocrinology, Medical Faculty, University of Coimbra, 3000-548 Coimbra, Portugal
  • jCentre of Molecular and Environmental Biology (CBMA), Department of Biology, University of Minho, 4710-057 Braga, Portugal
  • kDepartment of Pathology, Hospital S. João, 4200-319 Porto, Portugal
  • lDepartment of Pathology, Hospital de Braga, 4710-243 Braga, Portugal
  • mLife and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, 4710-057 Braga, Portugal
  • nMolecular Oncology Research Center, Barretos Cancer Hospital, CEP 14784-400 São Paulo, Brazil
  • oDepartment of Pathology, Clinical University Hospital, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain

Abstract

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. © 2013 Macmillan Publishers Limited. All rights reserved.

Indexed keywords

EMTREE drug terms:B Raf kinasemessenger RNAtelomerasetelomerase reverse transcriptase
GEOBASE Subject Index:agecancerenzymeenzyme activitynervous systemreactivationskintumor
EMTREE medical terms:age distributionarticlebladder cancercancer cell culturecancer geneticscancer patientcentral nervous system tumorcontrolled studygene frequencyglioblastomahumanhuman cellmelanomapromoter regionprotein expressionsomatic mutationthyroid cancerthyroid follicular carcinoma
MeSH:AdolescentAdultAge FactorsAgedAged, 80 and overCell Line, TumorCell Transformation, NeoplasticChildFemaleGene Expression Regulation, NeoplasticHumansMaleMiddle AgedMutation RateNeoplasmsPromoter Regions, GeneticTelomerase

Chemicals and CAS Registry Numbers:

telomerase reverse transcriptase, 120178-12-3;

TERT protein, human, 2.7.7.49; Telomerase, 2.7.7.49

Funding details

Funding sponsor Funding number Acronym
European Regional Development Fund
SFRH/BD/ 81940/2011,PIC/IC/83037/2007,SFRH/BD/79135/2011
Ministry of Science, Technology and Space
Fundação para a Ciência e a Tecnologia
See opportunities		SFRH/BPD/85249/2012
Fundação para a Ciência e a Tecnologia
See opportunities

  • 1

    We 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 Ciência 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 Referência Estratégico 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.

  • ISSN: 20411723
  • Source Type: Journal
  • Original language: English
  • DOI: 10.1038/ncomms3185
  • PubMed ID: 23887589
  • Document Type: Article

  Soares, P.; Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Portugal;
© Copyright 2014 Elsevier B.V., All rights reserved. © MEDLINE® is the source for the MeSH terms of this document.

Cited by 367 documents

Kircher, M. , Xiong, C. , Martin, B.
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
(2019) Nature Communications
Deniel, A. , Marguet, F. , Beaussire, L.
TERTp Mutation Detection in Plasma by Droplet-Digital Polymerase Chain Reaction in Spinal Myxopapillary Ependymoma with Lung Metastases
(2019) World Neurosurgery
Suster, D.I. , Deshpande, V. , Chebib, I.
Spindle cell liposarcoma with a TRIO-TERT fusion transcript
(2019) Virchows Archiv
View details of all 367 citations
Inform me when this document is cited in Scopus:
Set citation alert Set citation feed
{"topic":{"name":"Mutation; Telomerase; Promoter mutation","id":41415,"uri":"Topic/41415","prominencePercentile":96.57548,"prominencePercentileString":"96.575","overallScholarlyOutput":0},"dig":"4d730a2f47f54e6214dd04a5b6b274783aca1938fc9503e27e91e4998a7a5041"}

SciVal Topic Prominence

Topic:
Prominence percentile: