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Telomerase promoter mutations in cancer: an emerging molecular biomarker?

2014-08Journal article Open access
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dc.contributor.authorVinagre, João
dc.contributor.authorPinto, Vasco
dc.contributor.authorCelestino, Ricardo
dc.contributor.authorReis, Marta
dc.contributor.authorPopulo, H
dc.contributor.authorBoaventura, Paula
dc.contributor.authorMelo, Miguel
dc.contributor.authorCatarino, T.
dc.contributor.authorLima, Jorge
dc.contributor.authorLopes, José Manuel
dc.contributor.authorMaximo, Valdemar
dc.contributor.authorSobrinho-Simões, Manuel
dc.contributor.authorSoares, Paula
dc.date.accessioned2015-01-30T15:09:03Z
dc.date.available2015-01-30T15:09:03Z
dc.date.issued2014-08
dc.descriptionJoão Vinagre, Vasco Pinto and Ricardo Celestino contributed equally to the manuscript.por
dc.description.abstractCell immortalization has been considered for a long time as a classic hallmark of cancer cells. Besides telomerase reactivation, such immortalization could be due to telomere maintenance through the “alternative mechanism of telomere lengthening” (ALT) but the mechanisms underlying both forms of reactivation remained elusive. Mutations in the coding region of telomerase gene are very rare in the cancer setting, despite being associated with some degenerative diseases. Recently, mutations in telomerase (TERT) gene promoter were found in sporadic and familial melanoma and subsequently in several cancer models, notably in gliomas, thyroid cancer and bladder cancer. The importance of these findings has been reinforced by the association of TERT mutations in some cancer types with tumour aggressiveness and patient survival. In the first part of this review, we summarize the data on the biology of telomeres and telomerase, available methodological approaches and non-neoplastic diseases associated with telomere dysfunction. In the second part, we review the information on telomerase expression and genetic alterations in the most relevant types of cancer (skin, thyroid, bladder and central nervous system) on record, and discuss the value of telomerase as a new biomarker with impact on the prognosis and survival of the patients and as a putative therapeutic target.por
dc.identifier.citationVinagre, J., Pinto, V., Celestino, R. et al. Telomerase promoter mutations in cancer: an emerging molecular biomarker?. Virchows Arch 465, 119–133 (2014). https://doi.org/10.1007/s00428-014-1608-4
dc.identifier.doi10.1007/s00428-014-1608-4
dc.identifier.urihttp://hdl.handle.net/10400.22/5554
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherSpringer Verlagpor
dc.subjectTelomerasepor
dc.subjectTERTpor
dc.subjectPromoterpor
dc.subjectMutationspor
dc.subjectBiomarkerpor
dc.subjectCancerpor
dc.titleTelomerase promoter mutations in cancer: an emerging molecular biomarker?por
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceBerlinpor
oaire.citation.endPage133por
oaire.citation.startPage119por
oaire.citation.titleVirchows Archivpor
oaire.citation.volume465por
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person.familyNameCelestino
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person.familyNameBoaventura
person.familyNameAraújo Catarino
person.givenNameJoão
person.givenNameRicardo
person.givenNameMarta
person.givenNameHelena
person.givenNamePaula
person.givenNameTelmo
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rcaap.rightsopenAccesspor
rcaap.typearticlepor
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