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|Profile Name||TP53 R248W|
|Gene Variant Detail|
|Relevant Treatment Approaches||p53 Activator p53 Gene Therapy|
|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|