Article
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Nature - 13 Nov 2011
Yokoyama Satoru, Woods Susan L, Boyle Glen M, Aoude Lauren G, MacGregor Stuart, Zismann Victoria, Gartside Michael, Cust Anne E, Haq Rizwan, Harland Mark, Taylor John C, Duffy David L, Holohan Kelly, Dutton-Regester Ken, Palmer Jane M, Bonazzi Vanessa, Stark Mitchell S, Symmons Judith, Law Matthew H, Schmidt Christopher, Lanagan Cathy, O'Connor Linda, Holland Elizabeth A, Schmid Helen, Maskiell Judith A, Jetann Jodie, Ferguson Megan, Jenkins Mark A, Kefford Richard F, Giles Graham G, Armstrong Bruce K, Aitken Joanne F, Hopper John L, Whiteman David C, Pharoah Paul D, Easton Douglas F, Dunning Alison M, Newton-Bishop Julia A, Montgomery Grant W, Martin Nicholas G, Mann Graham J, Bishop D Timothy, Tsao Hensin, Trent Jeffrey M, Fisher David E, Hayward Nicholas K, Brown Kevin M
Abstract excerpt
So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases, and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds. Here we report the whole-genome sequencing of probands from several melanoma families, which we performed in order to...
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