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&...

詳細記述

保存先:
書誌詳細
出版年:Fam Cancer
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Springer Netherlands 2015
主題:
Original Article
オンライン･アクセス: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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