Frequency of TERT promoter mutations in human cancers.

Inhalt

Literaturnachweis - Detailanzeige

Trefferliste

Autor/Urheber	Vinagre, J; Almeida, A; Pópulo, H; Batista, R; Lyra, J; Pinto, V; Coelho, R; Celestino, R; Prazeres, H; Lima, L; Melo, M; Rocha, AG da; Preto, A; Castro, P; Castro, L; Pardal, F; Lopes, JM; Santos, LL; Reis, RM; Cameselle-Teijeiro, JM; Sobrinho-Simões, M;
Institution	Nature Publishing Group
Titel	Frequency of TERT promoter mutations in human cancers.
Quelle	In: Nature communications, vol. 4:2185. doi:10.1038/ncomms3185; 2041-1723; doi:10.1038/ncomms3185(2013) PDF als Volltext kostenfreie Datei
Sprache	englisch
Dokumenttyp	online; Zeitschriftenaufsatz
DOI	10.1038/ncomms3185
Schlagwörter	Adolescent; Adult; Age Factors; Aged; Aged 80 and over; Tumor; Cell Transformation Neoplastic/genetics; Cell Transformation Neoplastic/pathology; Child; Female; Humans; Male; Middle Aged; Neoplasms/genetics; Neoplasms/pathology; Telomerase/genetics
Abstract	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. ; We thank to Mrs Mafalda Rocha for the excellent technical support in the sequencing work. This work was partially supported by the Portuguese Science and Technology Foundation (FCT) through BPD (SFRH/BPD/85249/2012 to H. P.), PhD (SFRH/BD/81940/2011 to J.V. and SFRH/BD/79135/2011 to A. A.) and BI grants, and the grant through the Program Ciencia 2008 (J.L.) and the project (PIC/IC/83037/2007). Further funding was obtained from the project 'Microenvironment, metabolism and cancer' partially supported by Programa Operacional Regional do Norte (ON.2-O Novo Norte), under the Quadro de Referencia Estrategico Nacional (QREN), and through the Fundo Europeu de Desenvolvimento Regional (FEDER). IPATIMUP is an associate laboratory of the Portuguese Ministry of Science, Technology and Higher Education and is partially supported by the FCT.
Erfasst von	BASE - Bielefeld Academic Search Engine