Gene: TP53 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934571
rs28934571
TP53
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
TP53
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: rs1457582183
rs1457582183
TP53
0.010 GeneticVariation BEFREE Complete sequence analysis of these samples demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC samples B6-21 and B6-2, respectively. 10340391

1999
dbSNP: rs28934571
rs28934571
TP53
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: rs121912655
rs121912655
TP53
0.710 GeneticVariation BEFREE Involvement of interferon regulatory factor 1 and S100C/A11 in growth inhibition by transforming growth factor beta 1 in human hepatocellular carcinoma cells. 15205326

2004
dbSNP: rs1057519982
rs1057519982
TP53
0.010 GeneticVariation BEFREE Involvement of interferon regulatory factor 1 and S100C/A11 in growth inhibition by transforming growth factor beta 1 in human hepatocellular carcinoma cells. 15205326

2004
dbSNP: rs28934571
rs28934571
TP53
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: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs1131691014
rs1131691014
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs878854066
rs878854066
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008
dbSNP: rs1131691014
rs1131691014
TP53
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008
dbSNP: rs878854066
rs878854066
TP53
0.100 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844

2008
dbSNP: rs28934571
rs28934571
TP53
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
TP53
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: rs375874539
rs375874539
TP53
0.710 GeneticVariation BEFREE Our data showed that (1) the frequency of C609T NQO1 was significantly increased in TNM stage III HCC patients; (2) no significant association was found between p53 expression and C609T polymorphism of NQO1 gene; and (3) a tumor/non-tumor (T/N) ratio > 1.27 of NQO1 expression revealed by real-time qPCR analyses was positively correlated with poorer survival in patients with tumors >5 cm, suggesting that an increase of NQO1 expression may be an indicator of advanced tumor progression. 19688691

2009
dbSNP: rs1288373809
rs1288373809
TP53
0.010 GeneticVariation BEFREE Our data showed that (1) the frequency of C609T NQO1 was significantly increased in TNM stage III HCC patients; (2) no significant association was found between p53 expression and C609T polymorphism of NQO1 gene; and (3) a tumor/non-tumor (T/N) ratio > 1.27 of NQO1 expression revealed by real-time qPCR analyses was positively correlated with poorer survival in patients with tumors >5 cm, suggesting that an increase of NQO1 expression may be an indicator of advanced tumor progression. 19688691

2009
dbSNP: rs28934571
rs28934571
TP53
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
TP53
0.800 GeneticVariation BEFREE HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). 21768053

2011
dbSNP: rs28934571
rs28934571
TP53
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
TP53
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: rs121912654
rs121912654
TP53
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
TP53
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
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE Results indicated that Arg72Pro is associated with higher susceptibility to cancer in some tumor sites, mainly hepatocarcinoma. 20886596

2011
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE However, we did not find any main effect of TP53 Arg72Pro on HCC risk in this population. 20309940

2011