Heritability
Although some families with hereditary GISTs have been described, most cases are sporadic.
In GIST cells, the c-kit gene is mutated approximately 85% to 90% of the time. 35% of the GIST cells with wildtype (i.e. not mutated) c-kit instead have a mutation in another gene, PDGFR-α (platelet derived growth factor receptor alpha), which is a related tyrosine kinase.
Mutations in the exons 11, 9 and rarely 13 and 17 of the c-kit gene are known to occur in GIST. D816V point mutations in c-kit exon 17 are responsible for resistance to targeted therapy drugs like imatinib mesylate, a tyrosine kinase inhibitor. Mutations in c-kit and PDGFrA are mutually exclusive .
Read more about this topic: Gastrointestinal Stromal Tumor