Telomerase promoter mutations in cancer: an emerging molecular biomarker?

• Type: Another Publication in an International Scientific Journal
• Date: 2014

Authors

Joao Vinagre (Author) Other; Vasco Pinto (Author) Other; Ricardo Celestino (Author) Other; Marta Reis (Author) Other; Helena Populo (Author) Other; Paula Boaventura (Author) Other; Miguel Melo (Author) Other; Telmo Catarino (Author) Other; Jorge Lima (Author) FMUP; Lopes, JM (Author) FMUP; Valdemar Maximo (Author) Other; Manuel Sobrinho Simoes (Author) Other; Paula Soares (Author) FMUP

Journal

Title: Virchows Archiv

Vol. 465

Pages: 119-133

ISSN: 0945-6317

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 91 Citations

Scopus - 99 Citations

Scientific classification

FOS: Medical and Health sciences > Basic medicine

Other information

Authenticus ID: P-009-R8Z

DOI: 10.1007/s00428-014-1608-4

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 15