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Germline TERT promoter mutations are rare in familial melanoma

Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4, BAP1, and genes involved in telomere function (ACD, TERF2IP,POT1), have also been implicated in melanomagenesis. Mutation of the promoter of the telomerase reverse transcriptase (TERT) gene (c.−57 T&...

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Detalhes bibliográficos
Publicado no:Fam Cancer
Main Authors: Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-Marie, Brown, Kevin M., Hayward, Nicholas K., Newton-Bishop, Julia A., Adams, David J., Bishop, D. Timothy
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698275/
https://ncbi.nlm.nih.gov/pubmed/26433962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-015-9841-9
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