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Gene | VHL |
Variant | inact mut |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | VHL inact mut indicates that this variant results in a loss of function of the Vhl protein. However, the specific amino acid change has not been identified. |
Associated Drug Resistance | |
Category Variants Paths |
VHL mutant VHL inact mut |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 R248W VHL inact mut | clear cell renal cell carcinoma | resistant | PT2399 | Preclinical - Cell culture | Actionable | In a preclinical study, TP53 R248W was associated with resistance to PT2399 in VHL-defective clear cell renal cell carcinoma cell lines in culture (PMID: 27595393). | 27595393 |
TP53 wild-type VHL inact mut | renal cell carcinoma | sensitive | M8891 + Sunitinib | Preclinical - Pdx | Actionable | In a preclinical study, M8891 and Sutent (sunitinib) combination treatment resulted in improved tumor growth inhibition compared to monotherapies in patient-derived xenograft (PDX) models of TP53 wild-type renal cell carcinoma harboring VHL inactivating mutations (PMID: 37940144). | 37940144 |
TP53 wild-type VHL inact mut | renal cell carcinoma | sensitive | Cabozantinib + M8891 | Preclinical - Pdx | Actionable | In a preclinical study, M8891 and Cometriq (Cabometyx, cabozantinib) combination treatment resulted in improved tumor growth inhibition compared to monotherapies in patient-derived xenograft (PDX) models of TP53 wild-type renal cell carcinoma harboring VHL inactivating mutations (PMID: 37940144). | 37940144 |
TP53 wild-type VHL inact mut | renal cell carcinoma | sensitive | Axitinib + M8891 | Preclinical - Pdx | Actionable | In a preclinical study, M8891 and Inlyta (axitinib) combination treatment resulted in improved tumor growth inhibition compared to monotherapies in patient-derived xenograft (PDX) models of TP53 wild-type renal cell carcinoma harboring VHL inactivating mutations (PMID: 37940144). | 37940144 |