• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp820Ala (c.2459A>C); ClinVar=VCV000953798; Zygosity=Heterozygous (PubMed=16954519; PubMed=16982758).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560Asp (c.1679T>A); ClinVar=VCV000375914; Zygosity=Homozygous (PubMed=16954519; PubMed=16982758).
  

PubMed=16954519; DOI=10.1200/JCO.2006.06.2265
Heinrich M.C., Corless C.L., Blanke C.D., Demetri G.D., Joensuu H., Roberts P.J., Eisenberg B.L., von Mehren M., Fletcher C.D.M., Sandau K., McDougall K., Ou W.-B., Chen C.-J., Fletcher J.A.
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
J. Clin. Oncol. 24:4764-4774(2006)

PubMed=16982758; DOI=10.1158/0008-5472.CAN-06-0165
Bauer S., Yu L.K., Demetri G.D., Fletcher J.A.
Heat shock protein 90 inhibition in imatinib-resistant gastrointestinal stromal tumor.
Cancer Res. 66:9153-9161(2006)

PubMed=19706776; DOI=10.1158/0008-5472.CAN-08-4004; PMCID=PMC2905726
Muhlenberg T., Zhang Y.-X., Wagner A.J., Grabellus F., Bradner J.E., Taeger G., Lang H., Taguchi T., Schuler M., Fletcher J.A., Bauer S.
Inhibitors of deacetylases suppress oncogenic KIT signaling, acetylate HSP90, and induce apoptosis in gastrointestinal stromal tumors.
Cancer Res. 69:6941-6950(2009)

PubMed=22294416; DOI=10.1002/path.3986; PMCID=PMC3992120
Edris B., Espinosa I., Muhlenberg T., Mikels A., Lee C.-H., Steigen S.E., Zhu S., Montgomery K.D., Lazar A.J.F., Lev D.C., Fletcher J.A., Beck A.H., West R.B., Nusse R., van de Rijn M.
ROR2 is a novel prognostic biomarker and a potential therapeutic target in leiomyosarcoma and gastrointestinal stromal tumour.
J. Pathol. 227:223-233(2012)

PubMed=22665524; DOI=10.1158/1535-7163.MCT-12-0223; PMCID=PMC3992122
Heinrich M.C., Marino-Enriquez A., Presnell A., Donsky R.S., Griffith D.J., McKinley A., Patterson J., Taguchi T., Liang C.-W., Fletcher J.A.
Sorafenib inhibits many kinase mutations associated with drug-resistant gastrointestinal stromal tumors.
Mol. Cancer Ther. 11:1770-1780(2012)

PubMed=29866822; DOI=10.1073/pnas.1802079115; PMCID=PMC6016782
Hemming M.L., Lawlor M.A., Zeid R., Lesluyes T., Fletcher J.A., Raut C.P., Sicinska E.T., Chibon F., Armstrong S.A., Demetri G.D., Bradner J.E.
Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome.
Proc. Natl. Acad. Sci. U.S.A. 115:E5746-E5755(2018)

PubMed=30488756; DOI=10.1080/15384101.2018.1553335; PMCID=PMC6300111
Tu Y.-Q., Zuo R., Ni N., Eilers G., Wu D.-L., Pei Y.-T., Nie Z.-M., Wu Y.-Q., Wu Y.-H., Ou W.-B.
Activated tyrosine kinases in gastrointestinal stromal tumor with loss of KIT oncoprotein expression.
Cell Cycle 17:2577-2592(2018)