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

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: 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 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 Overall, these results support the preferential occurrence of R249S-mutated DNA in HCC developing in the absence of cirrhosis in a context of HBV chronic infection. 22675488

2012

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE These findings suggest that in HCC from The Gambia, complete HBX sequences are often associated with the presence of TP53 R249S mutation. 22759751

2012

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE TP53 mutations, particularly the hot spot mutations R249S and V157F, are associated with poor prognosis for patients with HCC. 21094160

2011

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE TP53 mutations, particularly the hot spot mutations R249S and V157F, are associated with poor prognosis for patients with HCC. 21616106

2011

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). 21768053

2011

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE We suggest that p.R249S may contribute to hepatocarcinogenesis through interaction with HBx, conferring a subtle growth advantage at early steps of the transformation process, but that this interaction is not required for progression to advanced HCC. 20538734

2010

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Overall, these results suggest that HCC containing R249S can occur in the absence of significant recent exposure to aflatoxins. 19366907

2009

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE Here, we summarize the mechanisms of R249S formation and the possible role of p.R249S protein in HCC pathogenesis. 19376640

2009

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE The presence of the R249S mutation in exon 7 may indicate that these subjects with HCC have been exposed to aflatoxin (AFB1), and further investigation is in progress to measure AFB1-albumin adducts in the sera of these subjects. 16078640

2005

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE A selective mutation in TP53 (AGG-->AGT at codon 249, Arg-->Ser) has been identified as a hotspot in HCCs from such areas, reflecting DNA damage caused by aflatoxin metabolites. 15095302

2004

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE A mutation in the tumor suppressor p53 gene resulting in an Arg-->Ser substitution in position 249 is found frequently in human hepatocellular carcinomas associated with hepatitis B infection and with aflatoxin exposure. 7605578

1995

dbSNP: rs28934571
rs28934571
0.800 GeneticVariation BEFREE We report here that p53-deficient hepatoma cells (Hep3B) transfected with mutant p53-249ser (codon 249 Arg-->Ser) acquire a new phenotype with an increased in vitro survival and mitotic activity. 8174105

1994

dbSNP: rs28934571
rs28934571
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912654
rs121912654
0.720 GeneticVariation BEFREE TP53 mutations, particularly the hot spot mutations R249S and V157F, are associated with poor prognosis for patients with HCC. 21094160

2011

dbSNP: rs121912654
rs121912654
0.720 GeneticVariation BEFREE TP53 mutations, particularly the hot spot mutations R249S and V157F, are associated with poor prognosis for patients with HCC. 21616106

2011