|
rs28934571
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S).
|
21768053 |
2011 |
|
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 |
|
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 |
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 |
|
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 |
|
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 |
|
rs28934571
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Co-targeting p53-R249S and CDK4 synergistically suppresses survival of hepatocellular carcinoma cells.
|
31747859 |
2020 |
|
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 |
|
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 |
|
rs121912656
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Furthermore, p53(G245D) was shown to have a similar pattern of subcellular localization to ZBP-89 in tissues of HCC patients in Hong Kong.
|
22214764 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, we did not find any main effect of TP53 Arg72Pro on HCC risk in this population.
|
20309940 |
2011 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, we did not find any main effect of TP53 Arg72Pro on HCC risk in this population.
|
20309940 |
2011 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
However, we did not find any main effect of TP53 Arg72Pro on HCC risk in this population.
|
20309940 |
2011 |
|
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 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, our findings further suggest that the combination of MDM2 SNP 309 and TP53 Arg72Pro genotypes confers higher risk to develop HCC.
|
24376578 |
2013 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, our findings further suggest that the combination of MDM2 SNP 309 and TP53 Arg72Pro genotypes confers higher risk to develop HCC.
|
24376578 |
2013 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, our findings further suggest that the combination of MDM2 SNP 309 and TP53 Arg72Pro genotypes confers higher risk to develop HCC.
|
24376578 |
2013 |
|
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 |
|
rs1064793929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, the β-catenin mutation was associ</span>ated with better prognosis in both S100P-positive and -negative HCC</span>s.
|
23785431 |
2013 |