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| Profile Name | TSC1 R424fs |
| Gene Variant Detail | |
| Relevant Treatment Approaches | mTOR Inhibitor mTORC1 Inhibitor |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| TSC1 R424fs | transitional cell carcinoma | no benefit | Buparlisib | Case Reports/Case Series | Actionable | In a Phase II trial, Buparlisib (BKM120) treatment resulted in progressive disease in a patient with metastatic urothelial carcinoma harboring TSC1 R424fs (PMID: 32767682; NCT01551030). | 32767682 |