Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Co-targeting p53-R249S and CDK4 synergistically suppresses survival of hepatocellular carcinoma cells. 31747859

2020

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE This review will discuss these findings as well as their clinical significance and implications for the development of a strategy to target multiple molecules as a therapy for p53-R249S-harboring HCC. 30608603

2019

dbSNP: rs121912666
rs121912666
0.710 GeneticVariation BEFREE In mutp53-Y220C-expressing hepatocellular carcinoma (HCC) cells, SLMP53-2-induced growth inhibition was mediated by cell cycle arrest, apoptosis, and endoplasmic reticulum stress response. 31405179

2019

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Droplet digital PCR detects high rate of TP53 R249S mutants in cell-free DNA of middle African patients with hepatocellular carcinoma. 29749584

2018

dbSNP: rs754332870
rs754332870
0.010 GeneticVariation BEFREE Analysis of the KRAS gene showed only a G12C variation in one large cell carcinoma (LCC) patient, whereas variants were not found in adenocarcinoma (ADC) and squamous cell carcinoma (SCC) cases. 30048458

2018

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE We discovered that the TP53 R249S mutation occurred in 7.7% of the HCC patients, and it was significantly associated with poor diagnosis. 28412734

2017

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Here we report a unique mechanism underlying the GOF of p53-R249S (p53-RS), a p53 mutant frequently detected in human hepatocellular carcinoma (HCC) that is highly related to hepatitis B infection and aflatoxin B1. 29225033

2017

dbSNP: rs28934578
rs28934578
0.710 GeneticVariation BEFREE In addition, exogenous Δ40p53 expression significantly suppressed cell growth in HCC cells with wild-type TP53, and in those that were mutant or null for TP53 Notably, Δ40p53α-induced tumor suppressor activity was markedly attenuated in cells expressing the hot-spot mutant Δ40p53α-R175H, which lacks the transcription factor activity of p53. 27980070

2017

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE No publication bias was found for all the meta-analysis as suggested by the Begg funnel plot and Egger tests.These results suggested that variants MDM2 SNP309 and p53 Arg72Pro are susceptibility factors for HCC; however, more studies are warranted to validate the results. 28885338

2017

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE No publication bias was found for all the meta-analysis as suggested by the Begg funnel plot and Egger tests.These results suggested that variants MDM2 SNP309 and p53 Arg72Pro are susceptibility factors for HCC; however, more studies are warranted to validate the results. 28885338

2017

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE No publication bias was found for all the meta-analysis as suggested by the Begg funnel plot and Egger tests.These results suggested that variants MDM2 SNP309 and p53 Arg72Pro are susceptibility factors for HCC; however, more studies are warranted to validate the results. 28885338

2017

dbSNP: rs779196500
rs779196500
0.010 GeneticVariation BEFREE In addition, we found that the L104P mutation in the VCX gene (Variable charge, X-linked) was absent in white blood cell samples, but present at 11.1% frequency in the adjacent tissues and increased to 14.6% in HCC tissues, suggesting that this mutation might be a tumor driver gene driving HCC carcinogenesis. 28412734

2017

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Furthermore, TP53 mutations were associated with shorter survival only in HBV-related HCC (p=0.02) whereas R249S mutations were identified exclusively in migrants. 25021421

2015

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Our data suggest that Arg72Pro polymorphism in a WT p53 context may act as a primary driver of epigenetic changes in HCC. 25889455

2015

dbSNP: rs1131691014
rs1131691014
0.100 GeneticVariation BEFREE Our data suggest that Arg72Pro polymorphism in a WT p53 context may act as a primary driver of epigenetic changes in HCC. 25889455

2015

dbSNP: rs878854066
rs878854066
0.100 GeneticVariation BEFREE Our data suggest that Arg72Pro polymorphism in a WT p53 context may act as a primary driver of epigenetic changes in HCC. 25889455

2015

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE CG and GG genotypes in rs1042522 and heterozygote and homozygote in rs2279744 were significantly associated with an elevated risk of HCC. 25412941

2014

dbSNP: rs879253942
rs879253942
0.010 GeneticVariation BEFREE Interrelationships among genetic C677T polymorphism of 5,10-methylenetetrahydrofolate reductase, biochemical folate status, and lymphocytic p53 oxidative damage in association with tumor malignancy and survivals of patients with hepatocellular carcinoma. 23996892

2014

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Thus, R249S may specifically cooperate with HBX in a pathway to HCC</span> that bypasses cirrhosis. 23200676

2013

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Our study shows moderate prevalence of aflatoxin B1-related p53 mutation (R249S) in HCC with or without HBsAg. 24460352

2013

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE R249S mutation was detected in 6.2% and 3.4% of the HCC and non-HCC groups, respectively, which was not significantly different. 23886144

2013

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE We have analyzed the associations between 19 SNPs spanning the TP53 locus and a single specific aflatoxin-induced TP53 mutation (R249S) in 85 in hepatocellular carcinoma cases and 132 controls from Thailand. 23836507

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE The study on p53 Arg72Pro and XRCC1 Arg399Gln polymorphism in HCC patients demonstrated differences in allele frequencies compared to their controls. 23053887

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE In subgroup analysis by ethnicity, the pooled results suggested that the p53 codon 72 Arg/Pro polymorphism was associated with an increased risk of HCC in Asians and Caucasians (for Asians, ORProPro vs. ArgArg + ArgPro=1.17 (95 % CI, 1.02-1.34), P OR=0.025; for Caucasians, ORProPro vs. ArgArg = 1.65 (95 % CI, 1.07-2.56), P OR=0.025; ORProPro vs. ArgArg + ArgPro=1.74 (95 % CI, 1.14-2.66), P OR=0.010). 23564481

2013

dbSNP: rs1042522
rs1042522
0.100 GeneticVariation BEFREE Two single nucleotide polymorphisms (SNPs) in the gene loci of p53 pathway, p53 codon 72 Arg72Pro and MDM2 SNP309 (T > G), have been shown to cause perturbation of p53 function, but the effect of the two SNPs on the risk of hepatocellular carcinoma (HCC) remains inconsistent. 23292895

2013