• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560_Leu576del (c.1678_1728del); ClinVar=VCV000523644; Zygosity=Heterozygous (PubMed=16954519; PubMed=16982758; PubMed=25239608).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val654Ala (c.1961T>C); ClinVar=VCV000375921; Zygosity=Heterozygous (PubMed=16954519; PubMed=16982758; PubMed=25239608).
  

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=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=25239608; DOI=10.1158/1078-0432.CCR-14-1397; PMCID=PMC4233175
Garner A.P., Gozgit J.M., Anjum R., Vodala S., Schrock A.B., Zhou T.-J., Serrano C., Eilers G., Zhu M.-J., Ketzer J., Wardwell S., Ning Y., Song Y., Kohlmann A., Wang F., Clackson T., Heinrich M.C., Fletcher J.A., Bauer S., Rivera V.M.
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
Clin. Cancer Res. 20:5745-5755(2014)

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)