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|Profile Name||RB1 K240Sfs*22 TP53 R248W|
|Gene Variant Detail||
RB1 K240Sfs*22 (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 K240Sfs*22 TP53 R248W||Her2-receptor negative breast cancer||predicted - resistant||Fulvestrant + Palbociclib||Case Reports/Case Series||Actionable||In a clinical case study, RB1 K240Sfs*22 and TP53 R248W 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 5 months of Ibrance (palbociclib) and Faslodex (fulvestrant) combination treatment (PMID: 29236940).||29236940|