Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

Michael Zeschnigk and colleagues identify recurrent somatic mutations of EIF1AX and SF3B1 in uveal melanomas with disomy 3. The EIF1AX mutations specifically alter the N-terminal tail of the protein and were found exclusively in tumors lacking SF3B1 mutations. Gene expression profiles and chromosome...

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Veröffentlicht in:	Nature genetics 2013-08, Vol.45 (8), p.933-936
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	692/699/67/1484 Agriculture Amino Acid Sequence Aneuploidy Animal Genetics and Genomics Biomedicine Cancer Research Chromosomes, Human, Pair 3 DNA Copy Number Variations DNA sequencing Eukaryotic Initiation Factor-1 - chemistry Eukaryotic Initiation Factor-1 - genetics Exome Female Gene expression Gene Expression Profiling Gene Function Gene mutations Genetic aspects High-Throughput Nucleotide Sequencing Human Genetics Humans letter Male Melanoma Melanoma - genetics Melanoma - mortality Melanoma - pathology Microsatellite Repeats Molecular Sequence Data Monosomy - genetics Mutation Neoplasm Metastasis Nucleotide sequencing Phosphoproteins - genetics Physiological aspects Prognosis Ribonucleoprotein, U2 Small Nuclear - genetics Risk factors RNA Splicing Factors Sequence Alignment Tumors Uveal Neoplasms - genetics Uveal Neoplasms - mortality Uveal Neoplasms - pathology
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