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| Profile Name | RB1 H483Y |
| Gene Variant Detail | |
| Relevant Treatment Approaches |
| Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|---|
| RB1 H483Y | Her2-receptor negative breast cancer | predicted - resistant | Letrozole + Ribociclib | Case Reports/Case Series | Actionable | In a clinical case study, RB1 H483Y was identified in the circulating tumor DNA of a patient with estrogen receptor (ESR1)-positive, progesterone receptor (PGR)-positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 13 months of Kisqali (ribociclib) and Femara (letrozole) combination treatment (PMID: 29236940). | 29236940 |