• Mutation; HGNC; 6342; KIT; Simple; p.Val560_Tyr578del (c.1679_1735del); Zygosity=Heterozygous (PubMed=12004007; PubMed=16077968).
  

PubMed=12004007; DOI=10.1038/labinvest.3780461
Taguchi T., Sonobe H., Toyonaga S.-i., Yamasaki I., Shuin T., Takano A., Araki K., Akimaru K., Yuri K.
Conventional and molecular cytogenetic characterization of a new human cell line, GIST-T1, established from gastrointestinal stromal tumor.
Lab. Invest. 82:663-665(2002)

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=19706776; DOI=10.1158/0008-5472.CAN-08-4004
Muhlenberg T., Zhang Y.-X., Wagner A.J., Grabellus F., Bradner J., 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=22665524; DOI=10.1158/1535-7163.MCT-12-0223
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=23716303; DOI=10.1002/ijc.28282
Takahashi T., Serada S., Ako M., Fujimoto M., Miyazaki Y., Nakatsuka R., Ikezoe T., Yokoyama A., Taguchi T., Shimada K., Kurokawa Y., Yamasaki M., Miyata H., Nakajima K., Takiguchi S., Mori M., Doki Y., Naka T., Nishida T.
New findings of kinase switching in gastrointestinal stromal tumor under imatinib using phosphoproteomic analysis.
Int. J. Cancer 133:2737-2743(2013)

PubMed=25239608; DOI=10.1158/1078-0432.CCR-14-1397
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=27997714; DOI=10.1002/gcc.22438
Takahashi T., Elzawahry A., Mimaki S., Furukawa E., Nakatsuka R., Nakamura H., Nishigaki T., Serada S., Naka T., Hirota S., Shibata T., Tsuchihara K., Nishida T., Kato M.
Genomic and transcriptomic analysis of imatinib resistance in gastrointestinal stromal tumors.
Genes Chromosomes Cancer 56:303-313(2017)

PubMed=29866822; DOI=10.1073/pnas.1802079115
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=32736695; DOI=10.1016/j.bbrc.2020.05.174
Cho W.-C., Shin Y.-K., Na Y.-S., Ryu M.-H., Ku J.-L., Kang Y.-K.
The role of novel fusion genes in human GIST cell lines derived from imatinib-resistant GIST patients: a therapeutic potential of fusion gene.
Biochem. Biophys. Res. Commun. 529:699-706(2020)

PubMed=34738628; DOI=10.3892/or.2021.8218
Shima T., Taniguchi K., Tokumaru Y., Inomata Y., Arima J., Lee S.-W., Takabe K., Yoshida K., Uchiyama K.
Glucose transporter-1 inhibition overcomes imatinib resistance in gastrointestinal stromal tumor cells.
Oncol. Rep. 47:7.1-7.13(2022)