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 GeneticVariation disease BEFREE Inversely, the high frequency of β-catenin mutations could be related to the increased frequency of malignant transformation in hepatocellular carcinoma. 23046672 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE The results show a modest correlation between diffuse glutamine synthetase immunostaining and exon 3 β-catenin mutations in hepatocellular adenoma and hepatocellular carcinoma with discrepancy rates >50% in both hepatocellular adenoma and hepatocellular carcinoma. 27469330 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE CTNNB1 (40%) and TP53 (21%) mutations were mutually exclusive and defined two major groups of HCC characterized by distinct phenotypes. 28532995 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE The activation of the Wnt pathway due to β-catenin gene mutations contributes to the development of a significant subset of HCC. 21093092 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE The polymorphism rs4135385 of CTNNB1 genotype GA was associated with a higher risk for Stage III + IV HCC (modified Union for International Cancer Control) (P = 0.001, OR = 2.238).Genetic polymorphisms in the WNT2 and CTNNB1 genes were closely associated with HCC risk and progression in a Chinese Han population. 28328801 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease LHGDN Ser-249 TP53 and CTNNB1 mutations in circulating free DNA of Egyptian patients with hepatocellular carcinoma versus chronic liver diseases. 18313840 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Activation of the Wnt signaling pathway is frequently observed in hepatocellular carcinoma (HCC), though mutation of three of its components, CTNNB1, AXIN1, and AXIN2, is observed substantially less often. 18592156 2008
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 These results show that, although chronic CAR activation per se induces HCCs carrying β-catenin mutations, it concurrently down-regulates the Wnt/β-catenin pathway in nontumoral liver. 30201494 2018
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 GeneticVariation disease BEFREE In contrast, ALDH3A1 was strongly upregulated in a subset of HCCs characterised by activation of the Wnt/ß-catenin pathway and CTNNB1 mutations. 24276407 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Mutations in <i>TP53</i> and β-catenin genes are the most frequent aberrations in HCC. 28067792 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE These data suggest that PAP expression designate a subset of low-grade, low-stage HCC with frequent beta-catenin mutation and hence more favorable prognosis, whereas further genetic or epigenetic alterations, such as p53 mutation and REG1A expression, lead to more advanced HCCs. 15814635 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE A β‑catenin mutant and β‑catenin wild‑type HCC models were treated once daily with i) 10 mg/kg sorafenib, ii) 15 mg/kg refametinib (or 25 mg/kg selumetinib), or iii) sorafenib/refametinib. 30747223 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Frequent mutations of suppressor genes, such as CTNNB1 (34.8%) and TP53 (26.1%), were detected in the HCC tumors. 26046304 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Functional studies indicated that the WNT pathway activation signature characteristic of S1 tumors was not simply the result of beta-catenin mutation but rather was the result of transforming growth factor-beta activation, thus representing a new mechanism of WNT pathway activation in HCC. 19723656 2009
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 GeneticVariation disease BEFREE Finally, integrative analysis of HCAs transformed to hepatocellular carcinoma revealed β-catenin mutation as an early alteration and TERT promoter mutations as associated with the last step of the adenoma-carcinoma transition. 24735922 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE In accordance with the immunohistochemical results, CTNNB1 mutations were less frequent in SH-HCC than C-HCC (3.1 vs. 20.8 %, p < 0.048). 26311355 2015
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 CTNNB1 mutations were similarly observed in K19<sup>+</sup> and K19<sup>-</sup> HCC (23% and 19%, respectively), but rare in S-iCCA (3%). 31017316 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Gene alterations in TERT promoter, TP53, CTNNB1, and HBV integration were closely associated with HCC development, and mutations in TERT promoter are related to poor prognosis. 26553052 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE WES of the HCC tissue uncovered somatic driver mutations in the beta-catenin (CTNNB1) and nuclear-factor-erythroid-2-related-factor-2 (NFE2L2) genes. 25016225 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE By contrast, a mutation in the beta-catenin gene in around 22% of HCCs is more rare in HBV-associated tumors. 12095925 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Our study demonstrates the importance of CTNNB1 mutations and NFE2L2-KEAP1 pathway activation in HB development and defines loss of genomic stability and TERT promoter mutations as prominent characteristics of aggressive HB with HCC features. 25135868 2014