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Gene | TSC2 |
Variant | loss |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | TSC2 loss indicates loss of the TSC2 gene, mRNA, and protein. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 inact mut TSC2 loss |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TSC2 loss | Advanced Solid Tumor | sensitive | Buthionine sulfoximine + Sirolimus | Preclinical - Cell line xenograft | Actionable | In a preclinical study, the combination of Rapamune (sirolimus) and Buthionine sulfoximine (BSO) resulted in increased production of ROS and cell death in transformed cells deficient for TSC2 in culture, and apoptotic activity and tumor regression in ELT3 cell line xenograft models also deficient for TSC2 (PMID: 27197195). | 27197195 |