rs28934571
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121912654
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs28934578
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131691042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs11540652
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28934576
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs55832599
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
rs1457582183
|
|
|
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 |
rs11540652
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line.
|
15004724 |
2004 |
rs121913343
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutant p53 expression enhances drug resistance in a hepatocellular carcinoma cell line.
|
15004724 |
2004 |
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 |
rs121912655
|
|
|
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 |
rs1057519982
|
|
|
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 |
rs1042522
|
|
|
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 |
rs1131691014
|
|
|
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 |
rs878854066
|
|
|
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 |
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 |
rs1042522
|
|
|
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 |
rs1131691014
|
|
|
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 |
rs878854066
|
|
|
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 |
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 |
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 |