CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 CausalMutation disease CLINVAR
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease UNIPROT
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 CausalMutation disease CGI
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Activation of the beta-catenin gene in primary hepatocellular carcinomas by somatic alterations involving exon 3. 9635572 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Thus alterations in the beta-catenin gene frequently are selected for during liver tumorigenesis and suggest that disregulation of the Wnt-beta-catenin pathway is a major event in the development of HCC in humans and mice. 9671767 1998
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Mutant forms of beta-catenin have been discovered in colon cancers that retain wild-type APC genes, and also in melanomas, medulloblastomas, prostate cancer and gastric and hepatocellular carcinomas. 10201372 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. 10435629 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE In conclusion, our data indicate that activation of the Wnt/beta-catenin pathway in HCC results mainly from somatic mutations in the beta-catenin gene and may promote tumor progression by stimulating tumor cell proliferation. 10487827 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Recently, beta-catenin, one of the key components of the Wnt signaling pathway, has been found to be mutated in about 20% of HCCs, suggesting a role of the Wnt pathway in their development. 10595907 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Our results indicate that accumulation of beta-catenin resulting from genetic mutations is a frequent event in non-fibrolamellar type hepatocellular carcinoma. 10597262 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE The present results indicate that (1) mutation of exon 3 of the beta-catenin gene can lead to beta-catenin accumulation, although other mechanisms of accumulation may also operate in HCC, and (2) beta-catenin accumulation and mutation of the beta-catenin gene are not early events in hepatocarcinogenesis, and may be associated with the malignant progression of HCC. 10665646 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Mutations in CTNNB1 (encoding beta-catenin) or APC (adenomatous polyposis coli) have been reported in human neoplasms including colon cancers and hepatocellular carcinomas (HCCs). 10700176 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE We found a point mutation of beta-catenin in one of nine HCCs in human and a deletion of it in Hep G2 cell line. 10811985 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE These findings suggest mechanisms for beta-catenin mutations differ between HBV-related and non-HBV-related HCCs, and that beta-catenin mutation is a favorable prognostic factor related to low stage. beta-Catenin mutation was associated with nuclear expression of the protein (P: < 0.00001), but we failed to detect point or large fragment deletion mutation in 39 HCCs with nuclear beta-catenin expression, presumably wild-type protein. 10980116 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE These results suggest that beta-catenin mutation plays an important role in the tumourigenesis of a subset of HCC of good prognosis, and that mutant and wild-type nuclear beta-catenin proteins are not functionally equivalent. 11169521 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Inactivation of the p16INK4a (p16) tumor suppressor gene by promoter hypermethylation and mutation within exon 3 of beta-catenin represent two of the more common gene alterations in human hepatocellular carcinoma (HCC). 11238187 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Mutations affecting phosphorylation sites in the beta-catenin gene have been implicated in the development of human and rodent hepatocellular carcinomas (HCCs). 11280770 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Mutations of CTNNB1 were identified in five HCCs. 11429783 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Review of the data from previous studies in HCC showed that beta-catenin mutations were more frequent in HCV-associated HCC than in HBV-associated ones. 11443619 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE The expression of beta-catenin was found to be heterogeneously distributed not only in various histological grades of the same tumor but also in areas of the same histological grade. p53 and beta-catenin gene mutations were detected in 1 tumor respectively, both of which were second primary HCCs and also recurred later. 11477549 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Axin, an important regulator of beta-catenin, is frequently mutated in human hepatocellular carcinomas (HCCs), and transduction of the wild-type Axin gene (AXIN1) induces apoptosis in HCC cells as well as in colon cancer cells. 11526492 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Using in situ hybridization, the signal corresponding to beta-catenin gene exon 3 mRNA was particularly strong in cytoplasm of HCC when compared with those of paracancerous tissues and normal liver tissues. 11570580 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Aberrant expression of the Wnt-beta-catenin pathway and enzymes for DNA replication also could contribute to the pathogenesis of HCC. 11752456 2001