• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Lys642Glu (c.1924A>G); ClinVar=VCV000013866; Zygosity=Homozygous (PubMed=11526490; PubMed=16077968).
  

PubMed=11526490; DOI=10.1038/sj.onc.1204704
Tuveson D.A., Willis N.A., Jacks T., Griffin J.D., Singer S., Fletcher C.D.M., Fletcher J.A., Demetri G.D.
STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications.
Oncogene 20:5054-5058(2001)

PubMed=16077968; DOI=10.3892/or.14.3.645
Noma K., Naomoto Y., Gunduz M., Matsuoka J., Yamatsuji T., Shirakawa Y., Nobuhisa T., Okawa T., Takaoka M., Tomono Y., Hiroyuki O., Gunduz E., Tanaka N.
Effects of imatinib vary with the types of KIT-mutation in gastrointestinal stromal tumor cell lines.
Oncol. Rep. 14:645-650(2005)

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=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)