Article
Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis
18 Oct 2016
Abstract excerpt
Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis. Although ligand-independent activation is the common feature of KIT mutations, the phenotypes mediated by various germline KIT mutations are different. Germline KIT mutations affect different tissues such...
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