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Frequency of TERT promoter mutations in human cancers

Author

Listed:
  • João Vinagre

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Institute of Biomedical Sciences of Abel Salazar, University of Porto)

  • Ana Almeida

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Institute of Biomedical Sciences of Abel Salazar, University of Porto)

  • 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)
    Medical Faculty, University of Porto)

  • Vasco Pinto

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto)

  • Ricardo Coelho

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Institute of Biomedical Sciences of Abel Salazar, University of Porto)

  • 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)
    Portuguese Institute of Oncology—Coimbra Centre (IPOFG, EPE))

  • Luis Lima

    (Institute of Biomedical Sciences of Abel Salazar, University of Porto
    Experimental Pathology and Therapeutics Group, Portuguese Institute of Oncology
    Nucleo de Investigação em Farmácia, Centro de Investigaçãoem Saúde e Ambiente (CISA), Health School of the Polytechnic Institute of Porto
    Portuguese League Against Cancer (Norte))

  • Miguel Melo

    (Diabetes and Metabolism, University Hospital of Coimbra
    Unit of Endocrinology, Medical Faculty, University of Coimbra)

  • Adriana Gaspar da Rocha

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto)

  • Ana Preto

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Centre of Molecular and Environmental Biology (CBMA), University of Minho, Campus de Gualtar)

  • Patrícia Castro

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP))

  • Ligia Castro

    (Medical Faculty, University of Porto
    Hospital S. João)

  • Fernando Pardal

    (Hospital de Braga)

  • José Manuel Lopes

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto
    Hospital S. João)

  • 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
    Molecular Oncology Research Center, Barretos Cancer Hospital)

  • 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)
    Medical Faculty, University of Porto
    Hospital S. João)

  • Jorge Lima

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto)

  • Valdemar Máximo

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto)

  • Paula Soares

    (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
    Medical Faculty, University of Porto)

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.

Suggested Citation

  • 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, 2013. "Frequency of TERT promoter mutations in human cancers," Nature Communications, Nature, vol. 4(1), pages 1-6, October.
    • Handle: RePEc:nat:natcom:v:4:y:2013:i:1:d:10.1038_ncomms3185
    DOI: 10.1038/ncomms3185
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    Cited by:

    1. Carter J. Barger & Abigail K. Suwala & Katarzyna M. Soczek & Albert S. Wang & Min Y. Kim & Chibo Hong & Jennifer A. Doudna & Susan M. Chang & Joanna J. Phillips & David A. Solomon & Joseph F. Costello, 2022. "Conserved features of TERT promoter duplications reveal an activation mechanism that mimics hotspot mutations in cancer," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    2. Akihiko Fukagawa & Natsuko Hama & Yasushi Totoki & Hiromi Nakamura & Yasuhito Arai & Mihoko Saito-Adachi & Akiko Maeshima & Yoshiyuki Matsui & Shinichi Yachida & Tetsuo Ushiku & Tatsuhiro Shibata, 2023. "Genomic and epigenomic integrative subtypes of renal cell carcinoma in a Japanese cohort," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    3. Josefine Radke & Naveed Ishaque & Randi Koll & Zuguang Gu & Elisa Schumann & Lina Sieverling & Sebastian Uhrig & Daniel Hübschmann & Umut H. Toprak & Cristina López & Xavier Pastor Hostench & Simone B, 2022. "The genomic and transcriptional landscape of primary central nervous system lymphoma," Nature Communications, Nature, vol. 13(1), pages 1-20, December.

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