rs11540652, TP53

N. diseases: 57
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation. 31645443 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2. 30107178 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE TP53 mutation analysis revealed an R248L mutation in both epithelial and mesenchymal components of 1 tumor.No TP53 rearrangements were identified. 25704628 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior. 26260781 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE We conclude that in the AA-derived TNBC HCC70 cells mtp53 R248Q expression results in a causative tumor associated phenotype. 26703669 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Here we use a novel mutp53 mouse model expressing an inactivatable R248Q hotspot mutation (floxQ) to show that tumours depend on sustained mutp53 expression. 26009011 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation CLINVAR Mutant p53 in cancer: new functions and therapeutic opportunities. 24651012 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.770 GeneticVariation BEFREE Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. 22534715 2012