Frequency of TERT promoter mutations in human cancers.

  title={Frequency of TERT promoter mutations in human cancers.},
  author={Jo{\~a}o Vinagre and Ana Almeida and Helena P{\'o}pulo and Rui F. Batista and Joana Lyra and Vasco Pinto and Ricardo Coelho and Ricardo A. R. Celestino and Hugo Prazeres and Lu{\'i}s Lima and Miguel Melo and Adriana Gaspar da Rocha and Ana Preto and Patricia Miranda Castro and L{\'i}gia Prado e Castro and Fernando Pardal and Jos{\'e} Manuel Lopes and L{\'u}cio Lara Santos and Rui Manuel Reis and Jos{\'e} Manuel Cameselle-Teijeiro and Manuel Sobrinho-Sim{\~o}es and Jorge Lima and Valdemar M{\'a}ximo and Paula Soares},
  journal={Nature communications},
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… CONTINUE READING
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TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.

Proceedings of the National Academy of Sciences of the United States of America • 2013
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