Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In addition, in the stratified analysis by cancer type, an increased risk was identified in hepatocellular carcinoma and breast cancer in C282Y polymorphism, as well as pancreatic cancer in H63D polymorphism, whereas a decreased risk of colorectal cancer was identified in C282Y polymorphism. 26107216 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE C282Y homozygosity is associated with increased risk of colorectal cancer and hepatocellular cancer in men. 23281741 2013
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE We assessed the influence of Ala16Val-superoxide dismutase 2, Pro198Leu-glutathione peroxidase 1, and -463G/A-myeloperoxidase genotypes (high activity for the Ala, Pro, and G alleles, respectively) on the risks of cirrhosis and hepatocellular carcinoma (HCC) in patients homozygous for the C282Y-hemochromatosis (HFE) gene mutation. 20673159 2011
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiological evidence and deserve further study and additional biological and clinical assessment. 21240526 2011
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Association between C282Y and H63D mutations of the HFE gene with hepatocellular carcinoma in European populations: a meta-analysis. 20196837 2010
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE Liver iron overload and C282Y mutation are associated with a higher risk of HCC in patients with alcoholic but not HCV-related cirrhosis. 18061182 2008
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE On the contrary, HFE C282Y and SERPINA1 mutations do not contribute to hepatocellular carcinoma development. 18164971 2008
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.100 GeneticVariation BEFREE In this population, we found that only a very small proportion of homozygotes for the HFE C282Y mutation developed hepatocellular carcinoma. 15929796 2005
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: 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