• 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
Michael Charles Heinrich, Christopher L. Corless, Charles David Blanke, George Daniel Demetri, Heikki Joensuu, Peter J. Roberts, Burton L. Eisenberg, Margaret von Mehren, Christopher David Marsden Fletcher, Katrin Sandau, Karen McDougall ...Show all 14 authors... , Wen-Bin Ou, Chang-Jie Chen, Jonathan A. Fletcher; Show fewer authors
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
Sebastian Bauer, Lynn K. Yu, George Daniel Demetri, Jonathan A. Fletcher;
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
Michael Charles Heinrich, Adrian Marino-Enriquez, Ajia Presnell, Rachel S. Donsky, Diana J. Griffith, Arin McKinley, Janice Patterson, Takahiro Taguchi, Cher-Wei Liang, Jonathan A. Fletcher;
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
Andrew P. Garner, Joseph M. Gozgit, Rana Anjum, Sadanand Vodala, Alexa B. Schrock, Tian-Jun Zhou, Cesar Serrano, Grant Eilers, Mei-Jun Zhu, Julia Ketzer, Scott Wardwell ...Show all 20 authors... , Yan Ning, Youngchul Song, Anna Kohlmann, Frank Wang, Tim Clackson, Michael Charles Heinrich, Jonathan A. Fletcher, Sebastian Bauer, Victor M. Rivera; Show fewer authors
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
Matthew L. Hemming, Matthew A. Lawlor, Rhamy Zeid, Tom Lesluyes, Jonathan A. Fletcher, Chandrajit P. Raut, Ewa T. Sicinska, Frederic Chibon, Scott Allen Armstrong, George Daniel Demetri, James E. Bradner;
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
Yu-Qing Tu, Rui Zuo, Nan Ni, Grant Eilers, Duo-Lin Wu, Yu-Ting Pei, Zuo-Ming Nie, Ye-Qing Wu, Yue-Hong Wu, Wen-Bin Ou;
Activated tyrosine kinases in gastrointestinal stromal tumor with loss of KIT oncoprotein expression.
Cell Cycle 17:2577-2592(2018)