Frequency of TERT promoter mutations in human cancers

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Joao Vinagre (Author) Other; Ana Almeida (Author) Other; Helena Populo (Author) Other; Rui Batista (Author) Other; Joana Lyra (Author) Other; Vasco Pinto (Author) Other; Ricardo Coelho (Author) Other; Ricardo Celestino (Author) Other; Hugo Prazeres (Author) Other; Luis Lima (Author) Other; Miguel Melo (Author) Other; Adriana Gaspar da Rocha (Author) Other; Ana Preto (Author) Other; Patricia Castro (Author) Other; Ligia Castro (Author) Other; Fernando Pardal (Author) Other; Jose Manuel Lopes (Author) FMUP; Lucio Lara Santos (Author) ICBAS; Rui Manuel Reis (Author) Other; Jose Cameselle Teijeiro (Author) Other; Manuel Sobrinho Simoes (Author) FMUP; Jorge Lima (Author) FMUP; Valdemar Maximo (Author) FMUP; Paula Soares (Author) FMUP

Journal

Title: Nature Communications

Vol. 4

ISSN: 2041-1723

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 689 Citations

Scopus - 719 Citations

Other information

Authenticus ID: P-006-9BB

DOI: 10.1038/ncomms3185

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6