Telomerase promoter mutations in cancer: an emerging molecular biomarker?
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2014 |
| Outros Autores: | , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10400.22/5554 |
Resumo: | João Vinagre, Vasco Pinto and Ricardo Celestino contributed equally to the manuscript. |
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Telomerase promoter mutations in cancer: an emerging molecular biomarker?TelomeraseTERTPromoterMutationsBiomarkerCancerJoão Vinagre, Vasco Pinto and Ricardo Celestino contributed equally to the manuscript.Cell 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.Springer VerlagRepositório Científico do Instituto Politécnico do PortoVinagre, JoãoPinto, VascoCelestino, RicardoReis, MartaPopulo, HBoaventura, PaulaMelo, MiguelCatarino, T.Lima, JorgeLopes, José ManuelMaximo, ValdemarSobrinho-Simões, ManuelSoares, Paula2015-01-30T15:09:03Z2014-082014-08-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.22/5554engVinagre, 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/s00428-014-1608-410.1007/s00428-014-1608-4info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-12-20T01:52:32Zoai:recipp.ipp.pt:10400.22/5554Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:26:03.180494Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| title |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| spellingShingle |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? Vinagre, João Telomerase TERT Promoter Mutations Biomarker Cancer |
| title_short |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| title_full |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| title_fullStr |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| title_full_unstemmed |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| title_sort |
Telomerase promoter mutations in cancer: an emerging molecular biomarker? |
| author |
Vinagre, João |
| author_facet |
Vinagre, João Pinto, Vasco Celestino, Ricardo Reis, Marta Populo, H Boaventura, Paula Melo, Miguel Catarino, T. Lima, Jorge Lopes, José Manuel Maximo, Valdemar Sobrinho-Simões, Manuel Soares, Paula |
| author_role |
author |
| author2 |
Pinto, Vasco Celestino, Ricardo Reis, Marta Populo, H Boaventura, Paula Melo, Miguel Catarino, T. Lima, Jorge Lopes, José Manuel Maximo, Valdemar Sobrinho-Simões, Manuel Soares, Paula |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Politécnico do Porto |
| dc.contributor.author.fl_str_mv |
Vinagre, João Pinto, Vasco Celestino, Ricardo Reis, Marta Populo, H Boaventura, Paula Melo, Miguel Catarino, T. Lima, Jorge Lopes, José Manuel Maximo, Valdemar Sobrinho-Simões, Manuel Soares, Paula |
| dc.subject.por.fl_str_mv |
Telomerase TERT Promoter Mutations Biomarker Cancer |
| topic |
Telomerase TERT Promoter Mutations Biomarker Cancer |
| description |
João Vinagre, Vasco Pinto and Ricardo Celestino contributed equally to the manuscript. |
| publishDate |
2014 |
| dc.date.none.fl_str_mv |
2014-08 2014-08-01T00:00:00Z 2015-01-30T15:09:03Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
| dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.22/5554 |
| url |
http://hdl.handle.net/10400.22/5554 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Vinagre, 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 10.1007/s00428-014-1608-4 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
| dc.publisher.none.fl_str_mv |
Springer Verlag |
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Springer Verlag |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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