Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
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 |
||||
|
0.770 | GeneticVariation | BEFREE | Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior. | 26260781 | 2015 |
||||
|
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 |
||||
|
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 |
||||
|
T | 0.770 | GeneticVariation | CLINVAR | Mutant p53 in cancer: new functions and therapeutic opportunities. | 24651012 | 2014 |
|||
|
T | 0.770 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
|||
|
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 |
||||
|
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 |
||||
|
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 |