rs28934571, TP53

N. diseases: 31
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation BEFREE Co-targeting p53-R249S and CDK4 synergistically suppresses survival of hepatocellular carcinoma cells. 31747859 2020
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation BEFREE Thus, R249S may specifically cooperate with HBX in a pathway to HCC</span> that bypasses cirrhosis. 23200676 2013
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation BEFREE Our study shows moderate prevalence of aflatoxin B1-related p53 mutation (R249S) in HCC with or without HBsAg. 24460352 2013
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 GeneticVariation BEFREE HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). 21768053 2011
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.800 CausalMutation CLINVAR
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.700 CausalMutation CLINVAR
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 GeneticVariation CLINVAR