• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Val560_Tyr578del (c.1679_1735del); Zygosity=Heterozygous (PubMed=25239608).
  
• Mutation; HGNC; HGNC:6342; KIT; Simple; p.Asp820Glu (c.2460T>A) (D816E); ClinVar=VCV000375929; Zygosity=Heterozygous (PubMed=25239608).
  

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=32736695; DOI=10.1016/j.bbrc.2020.05.174
Woo-Cheol Cho, Young-Kyoung Shin, Young-Soon Na, Min-Hee Ryu, Ja-Lok Ku, Yoon-Koo Kang;
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)