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Gene | RB1 |
Variant | inact mut |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | RB1 inact mut indicates that this variant results in a loss of function of the Rb1 protein. However, the specific amino acid change has not been identified. |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 inact mut |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CDKN2A pos RB1 inact mut | glioblastoma | resistant | Palbociclib | Preclinical - Patient cell culture | Actionable | In a preclinical study, patient-derived glioblastoma cells harboring RB1 truncation mutation and expressing Cdkn2a were resistant to Ibrance (palbociclib) in culture (PMID: 22711607). | 22711607 |