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Profile Name | RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del |
Gene Variant Detail |
RB1 E268* (loss of function - predicted) |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del | Her2-receptor negative breast cancer | predicted - resistant | Fulvestrant + Palbociclib | Case Reports/Case Series | Actionable | In a clinical case study, RB1 mutations including E268*, I101fs, T738_R775del, and V654fs were identified in the circulating tumor DNA of a patient with estrogen receptor positive, progesterone receptor positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 8 months of Ibrance (palbociclib) and Faslodex (fulvestrant) combination treatment (PMID: 29236940). | 29236940 |