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| Ref Type | Journal Article | ||||||||||||
| PMID | (23610110) | ||||||||||||
| Authors | Speight RA, Nicolle A, Needham SJ, Verrill MW, Bryon J, Panter S | ||||||||||||
| Title | Rare, germline mutation of KIT with imatinib-resistant multiple GI stromal tumors and mastocytosis. | ||||||||||||
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| 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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| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| KIT K509I | gastrointestinal stromal tumor | no benefit | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease at 9 months in a patient with advanced gastrointestinal stromal tumor harboring a germline KIT K509I mutation, which was later discontinued due to adverse effects and lack of response (PMID: 23610110). | 23610110 |