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Ref Type Journal Article
PMID (34250403)
Authors Makris EA, Sharma AK, Bergstrom EN, Xu X, de la Torre J, Banerjee S, Nguyen V, Hosseini M, Burgoyne A, Harismendy O, Alexandrov LB, Sicklick JK
Title Synchronous, Yet Genomically Distinct, GIST Offer New Insights Into Precise Targeting of Tumor Driver Mutations.
Journal Vol Issue Date Pages Journal Short Title
JCO precision oncology 5 2021 JCO Precis Oncol
URL
Abstract Text

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
KIT V560E missense unknown KIT V560E lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 12879016). V560E has been identified in the scientific literature (PMID: 25695690, PMID: 34250403, PMID: 35982969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Sep 2025).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560E gastrointestinal stromal tumor conflicting Imatinib Case Reports/Case Series Actionable In a clinical case study, neoadjuvant Gleevec (imatinib) treatment resulted in decreased tumor size with a maximal response at 12 months in a patient with gastrointestinal stromal tumor (GIST) harboring KIT V560E, allowing for surgical resection (PMID: 34250403). 34250403