Molecular Profile Detail


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Profile Name RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del
Gene Variant Detail

RB1 E268* (loss of function - predicted)

RB1 I101fs (loss of function - predicted)

RB1 T738_R775del (unknown)

RB1 V654fs (loss of function - predicted)

Relevant Treatment Approaches


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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