Article
Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 Feb 2004
Robson Mark E, Glogowski Emily, Sommer Gunhild, Antonescu Cristina R, Nafa Khedoudja, Maki Robert G, Ellis Nathan, Besmer Peter, Brennan Murray, Offit Kenneth
Abstract excerpt
PURPOSE: Somatic mutations that result in the activation of the growth factor receptor KIT are commonly found in gastrointestinal stromal tumors (GISTs). Six families have been reported in which a germ-line mutation in KIT is associated with an autosomal dominant predisposition to the development of GISTs. Hyperpigmentation, urticaria pigmentosa, and dysphagia have been described in some, but not all, families....
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