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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Enregistré dans:
Détails bibliographiques
Publié dans:Fam Cancer
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Springer Netherlands 2015
Sujets:
Original Article
Accès en ligne: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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