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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. | ||||||||||||
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Abstract Text |
Molecular Profile | Treatment Approach |
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Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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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), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024). |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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KIT V560E | gastrointestinal stromal tumor | predicted - sensitive | 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 |