Article
Germline TERT promoter mutations are rare in familial melanoma.
Familial cancer - 1 Jan 2016
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
Abstract excerpt
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>G variant) has been reported in one family. We tested for the TERT promoter variant in 675 multicase families...
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