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|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|
|RB1 mutant||osteosarcoma||sensitive||VCN-01||Preclinical - Cell line xenograft||Actionable||In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261).||26603261|
|RB1 mutant||estrogen-receptor positive breast cancer||predicted - resistant||Palbociclib||Phase III||Actionable||In a Phase III trial (PALOMA-3), acquired RB1 mutations were identified in patents with ER-positive, ERBB2 (HER2)-negative breast cancer at the end of treatment in the Faslodex (fulvestrant) plus Ibrance (palbociclib) but not the Faslodex (fulvestrant) plus placebo arm, suggesting a role in conferring resistance to Ibrance (palbociclib) (PMID: 30206110; NCT01942135).||30206110|