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KIT
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Interpretation 150
Tier 1
KIT
Variants
KIT V560D
KIT exon(s) 11 any
Primary Sites
Stomach
Small Intestine
Tumor Types
Gastrointestinal Stromal Tumor
Interpretation

KIT mutations occur in approximately 80% of patients with gastrointestinal stromal tumors. The major region of KIT mutation in GIST is within exon 11, occurring in about 65% of patients. KIT exon 11 mutations are activating mutations and are typically sensitive to treatment with Imatinib.

Citations
  1. Barnett CM, Corless CL, Heinrich MC. Gastrointestinal stromal tumors: molecular markers and genetic subtypes. Hematol Oncol Clin North Am. 2013 Oct;27(5):871-88. doi: 10.1016/j.hoc.2013.07.003. Epub 2013 Aug 26. Review.
  2. Gajiwala KS, et al. KIT kinase mutants show unique mechanisms of drug resistance to imatinib and sunitinib in gastrointestinal stromal tumor patients. Proc Natl Acad Sci U S A. 2009 Feb 3;106(5):1542-7. doi: 10.1073/pnas.0812413106. Epub 2009 Jan 21. PubMed PMID: 19164557; PubMed Central PMCID: PMC2635778. PubMed PMID: 24093165.
  3. Ashman LK, Griffith R. Therapeutic targeting of c-KIT in cancer. Expert Opin Investig Drugs. 2013 Jan;22(1):103-15. doi:10.1517/13543784.2013.740010. Epub 2012 Nov 6. Review. PubMed PMID: 23127174.
  4. Lindblad O, Kazi JU, Rönnstrand L, Sun J. PI3 kinase is indispensable for oncogenic transformation by the V560D mutant of c-Kit in a kinase-independent manner. Cell Mol Life Sci. 2015 Jun 4. [Epub ahead of print] PubMed PMID: 26040420.
Last updated: 2016-10-11 21:39:37 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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