|
rs28934571
|
|
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 |
|
rs28934571
|
|
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 |
|
rs1051740
|
|
Liver carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Polymorphic forms of the human EPHX gene have been described that vary in enzymatic activity, and one, Tyr113His, has been associated with hepatocellular carcinoma susceptibility.
|
8944076 |
1996 |
|
rs1040441824
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In contrast to its inactivity in these cells, the K129E mutant was 2-3 fold more active than wild-type PTPS when transfected into COS-1 or the human hepatoma cell line Hep G2.
|
9222757 |
1997 |
|
rs1457582183
|
|
Liver carcinoma
|
|
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 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A germline C282Y mutation was found in none of the hepatocellular carcinoma patients; the frequency of the H63D mutation was not increased, compared to the 130 controls.
|
10660482 |
2000 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
In patients with HCC in NCL and iron overload, C28</span>2Y mutations are frequent (36.8% of cases) and significantly increased (p<0.009) compared to HCC in NCL without iron overload; these mutations are mostly heterozygous.
|
10845668 |
2000 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The presence of the 2 mutations associated with hereditary hemochromatosis (C282Y and H63D) was sought by restriction fragment length polymorphism in 61 cirrhotic patients (46 males and 15 females) who underwent resection for HCC at a single institution.
|
10918159 |
2000 |
|
rs1799945
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The presence of the 2 mutations associated with hereditary hemochromatosis (C282Y and H63D) was sought by restriction fragment length polymorphism in 61 cirrhotic patients (46 males and 15 females) who underwent resection for HCC at a single institution.
|
10918159 |
2000 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The prevalence of the C282Y mutation was significantly higher in patients with hepatocellular carcinoma than in normal controls (8.6% vs 1.6%, P < 0.03).
|
11500061 |
2001 |
|
rs1799945
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aims of this study were to define the prevalence of the mutations 845G --> A and 187C --> G (C282Y and H63D) in the HFE gene associated with hereditary hemochromatosis in Italian patients with hepatocellular carcinoma occurring in cirrhosis and to analyze the interaction between these mutations and other established risk factors for hepatocellular carcinoma.
|
11500061 |
2001 |
|
rs879625015
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74.5% carried the UGT1A7*3 allele (P < 0.001; OR, 10.76; 95% CI, 4.75-24.38), which combines the W208R, N129K, and R131K mutations and encodes a protein with low carcinogen detoxification activity.No UGT1A9 polymorphisms were detected.
|
11677206 |
2001 |
|
rs771314938
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74.5% carried the UGT1A7*3 allele (P < 0.001; OR, 10.76; 95% CI, 4.75-24.38), which combines the W208R, N129K, and R131K mutations and encodes a protein with low carcinogen detoxification activity.No UGT1A9 polymorphisms were detected.
|
11677206 |
2001 |
|
rs386656364
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
UGT1A7 polymorphisms were present in 93.2% of hepatocellular cancer patients, 74.5% carried the UGT1A7*3 allele (P < 0.001; OR, 10.76; 95% CI, 4.75-24.38), which combines the W208R, N129K, and R131K mutations and encodes a protein with low carcinogen detoxification activity.No UGT1A9 polymorphisms were detected.
|
11677206 |
2001 |
|
rs523349
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
The risk of HCC increased with increasing concentrations of testosterone (odds ratio [OR](highest versus lowest tertile) = 2.97; 95% confidence interval [CI] = 1.54 to 5.70; P(trend) <.001) and with increasing number of the V allele of the SRD5A2 V89L polymorphism (OR(VV versus LL genotype) = 2.47; 95% CI = 1.21 to 5.03; P(trend) =.011).
|
11698569 |
2001 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The high frequency of heterozygosity for the C282Y mutation in patients with alcoholic cirrhosis plus hepatocellular carcinoma suggests that the presence of this mutation could be associated with an increased risk of developing hepatocellular carcinoma in these patients.
|
12003382 |
2002 |
|
rs1799945
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of this study was to investigate the association between HFE gene mutations (C282Y, H63D) and hepatocellular carcinoma in patients with alcoholic and virus-related cirrhosis.
|
12003382 |
2002 |
|
rs80356482
|
|
Liver carcinoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma.
|
12373566 |
2002 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Except for C282Y homozygotes, HFE gene mutations do not increase the risk to develop HCC in patients with cirrhosis.
|
12591066 |
2003 |
|
rs1799945
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y and H63D allele frequencies in HCC were 8.3 (95% confidence limit = 5.3-11.3) and 11.1 (7.8-14.6), respectively, and not different from previously published data in healthy subjects or patients with chronic hepatitis C in Austria.
|
12591066 |
2003 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hepatocellular carcinoma was estimated to occur in 2673 men in the cohort (1:374); 267 of these cases were in the subgroup of 5000 C282Y homozygotes (1:17).
|
12790309 |
2003 |
|
rs1800470
|
|
Liver carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Haplotype analysis revealed that the possession of [-509C > T; L10P] conferred a decreased likelihood of HCC (OR = 0.74; 95% CI, 0.59-0.93; P = 0.008).
|
12858019 |
2003 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis.
|
12865278 |
2003 |
|
rs1799945
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y and H63D mutations do not appear to be associated with an increased risk of HCC in patients with cirrhosis.
|
12865278 |
2003 |
|
rs1800562
|
|
Liver carcinoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y heterozygous genotype is significantly more common in HCC patients and is associated with significantly increased intrahepatic iron deposition and systemic iron stores.
|
15017669 |
2003 |