Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.22/5554
Título: Telomerase promoter mutations in cancer: an emerging molecular biomarker?
Autor: Vinagre, João
Pinto, Vasco
Celestino, Ricardo
Reis, Marta
Pópulo, Helena
Boaventura, Paula
Melo, Miguel
Catarino, Telmo
Lima, Jorge
Lopes, José Manuel
Máximo, Valdemar
Sobrinho-Simões, Manuel
Soares, Paula
Palavras-chave: Telomerase
TERT
Promoter
Mutations
Biomarker
Cancer
Data: Ago-2014
Editora: Springer Verlag
Resumo: 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.
Descrição: João Vinagre, Vasco Pinto and Ricardo Celestino contributed equally to the manuscript.
Peer review: yes
URI: http://hdl.handle.net/10400.22/5554
DOI: 10.1007/s00428-014-1608-4
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