A Familial Germline Mutation in KIT Associated with Achalasia, Mastocytosis and Gastrointestinal Stromal Tumors Shows Response to Kinase Inhibitors

We describe a unique germline mutation in in the extracellular domain encoded by exon 9 of KIT which leads to receptor activation resulting in achalasia, mastocytosis, and GIST in a family. Initial data suggests that this activation can be suppressed by kinase inhibitors.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research