Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.770 GeneticVariation BEFREE Identification of TP53 R248Q in this tumor correlated with its aggressive clinical behavior. 26260781

2015

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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

dbSNP: rs11540652
rs11540652
CUI: C0027651
Disease: Neoplasms
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