Frequency of TERT promoter mutations in human cancers

João Vinagre, Ana Almeida, Helena Pópulo, Rui Batista, Joana Lyra, Vasco Pinto, Ricardo Coelho, Ricardo Celestino, Hugo Prazeres, Luis Lima, Miguel Melo, Adriana Gaspar da Rocha, Ana Preto, Patrícia Castro, Ligia Castro, Fernando Pardal, José Manuel Lopes, Lúcio Lara Santos, Rui Manuel Reis, José Cameselle-Teijeiro, Manuel Sobrinho-Simões, Jorge Lima, Valdemar Máximo and Paula Soares ()
Additional contact information
João Vinagre: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Ana Almeida: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Helena Pópulo: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Rui Batista: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Joana Lyra: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Vasco Pinto: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Ricardo Coelho: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Ricardo Celestino: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Hugo Prazeres: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Luis Lima: Institute of Biomedical Sciences of Abel Salazar, University of Porto
Miguel Melo: Diabetes and Metabolism, University Hospital of Coimbra
Adriana Gaspar da Rocha: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Ana Preto: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Patrícia Castro: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Ligia Castro: Medical Faculty, University of Porto
Fernando Pardal: Hospital de Braga
José Manuel Lopes: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Lúcio Lara Santos: Experimental Pathology and Therapeutics Group, Portuguese Institute of Oncology
Rui Manuel Reis: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho
José Cameselle-Teijeiro: Clinical University Hospital, SERGAS, Medical Faculty, University of Santiago de Compostela, IDIS
Manuel Sobrinho-Simões: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Jorge Lima: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Valdemar Máximo: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Paula Soares: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)

Nature Communications, 2013, vol. 4, issue 1, 1-6

Abstract: 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.

Date: 2013
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DOI: 10.1038/ncomms3185

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