Article
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Nature genetics - 1 Aug 2013
Martin Marcel, Maßhöfer Lars, Temming Petra, Rahmann Sven, Metz Claudia, Bornfeld Norbert, van de Nes Johannes, Klein-Hitpass Ludger, Hinnebusch Alan G, Horsthemke Bernhard, Lohmann Dietmar R, Zeschnigk Michael
Abstract excerpt
Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize. Targeted resequencing showed that 24 of 31 tumors with disomy 3 (77%) had mutations in either EIF1AX (15; 48%) or...
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