Product Description

KIT mutations are generally somatic mutations which occur in GIST (gastrointestinal stromal tumors).  These are activating mutations, causing constitutive up-regulation of c-kit, leading to cell proliferation and reduced apoptosis.  Patients with mutation-positive tumors are more responsive to c-kit inhibitors such as imatinib (Gleevec) and sunitinib (Sutent). Patient responses are correlated with the location of the KIT mutation. For comprehensive coverage of the mutations to the KIT gene, the Complete KIT Analysis provides sequencing of KIT exons 8, 9, 10, 11, 12, 13, 14, 15, 16, and 17.

In addition to the somatic KIT mutations, families have been reported with germline KIT mutations.  These families have germline mutations generally have piebaldism (spotty hypopigmentation) or, rarely, familial GIST syndrome.  This test, however, is most appropriate for tumor rather than germline testing.