Molecular Profile Detail

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Profile Name TP53 R248W
Gene Variant Detail

TP53 R248W (loss of function)

Relevant Treatment Approaches p53 Activator p53 Gene Therapy

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 R248W VHL inact mut clear cell renal cell carcinoma resistant PT2399 Preclinical - Cell culture Actionable In a preclinical study, TP53 R248W was associated with resistance to PT2399 in VHL-defective clear cell renal cell carcinoma cell lines in culture (PMID: 27595393). 27595393
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
JAK2 V617F TP53 R248W acute myeloid leukemia predicted - sensitive IMG-7289 Preclinical - Cell culture Actionable In a preclinical study, IMG-7289 treatment led to inhibition of colony formation, increased apoptosis and induction of cell cycle arrest in an acute myeloid leukemia cell line harboring JAK2 V617F and TP53 R248W in culture (PMID: 31723778). 31723778
JAK2 V617F TP53 R248W acute myeloid leukemia predicted - sensitive IMG-7289 + Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, combination treatment with Jakafi (ruxolitinib) and IMG-7289 led to synergistic inhibition of colony formation and apoptosis induction in an acute myeloid leukemia cell line harboring JAK2 V617F and TP53 R248W in culture (PMID: 31723778). 31723778
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries