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Article

Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case

10 Nov 2015

Abstract excerpt

BACKGROUND: Approximately 10-15 % of gastrointestinal stromal tumors (GISTs) lack gain of function mutations in the KIT and platelet-derived growth factor receptor alpha (PDGFRA) genes. An alternate mechanism of oncogenesis through loss of function of the succinate-dehydrogenase (SDH) enzyme complex has been identified for a subset of these "wild type" GISTs. METHODS: Paired tumor and normal DNA from an...

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PMID: 26555092
DOI: 10.1186/s12885-015-1872-y

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