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: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 CausalMutation disease CGI
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 CausalMutation disease CLINVAR
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE beta-catenin mutation and RASSF1A methylation were found in 22 (56.4%) and 15 (38.5%) of 39 hepatoblastomas, respectively, but SFRPs methylation was not found in any of them. 16937357 2007
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE A further investigation using N- and C-terminal-specific β-catenin antibodies on human hepatoblastomas revealed a correlation between full-length versus truncated β-catenin and differentiation status, with embryonal hepatoblastomas expressing full-length β-catenin and fetal hepatoblastomas expressing β-catenin lacking its N terminus. 22613727 2012
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 AlteredExpression disease BEFREE A histological examination revealed all HBL cases involving tumors without detectable CTNNB1 gene alterations to show high expression of beta-catenin, thus indicating the accumulation of beta-catenin to be a common event in malignant PLTs, including HBL and hepatocellular carcinoma. 16465411 2006
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE According to recent reports describing beta-catenin mutations (BCM) at hot-spot regions involving exon 3 in several types of malignancies including HB, we investigated BCM in 16 HBs classified into different histological types. 11666046 2001
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE All 3 (100%) mixed epithelial and mesenchymal HBL harbored CTNNB1 mutation. 29079173 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 AlteredExpression disease BEFREE Also, niclosamide, a Food and Drug Administration approved antihelminth compound, could effectively inhibit HB cell growth in vitro and in vivo via downregulation of Dvl-2 and β-catenin expression. 29528187 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Although mutations in CTNNB1 were not found in the second hepatoblastoma, nuclear accumulation of beta-catenin was detected. 14692643 2004
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Among human cancers tightly linked to abnormal Wnt/β-catenin signaling, hepatoblastoma (HB) presents with the highest rate (50-90%) of β-catenin mutations. 19646548 2011
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE By contrast, the expression levels of epithelial-cadherin (E-cadherin) and cytosolic accumulation of β-catenin, the two most prominent markers involved in epithelial-mesenchymal transition (EMT), were reduced in liver specimens from patients with metastatic HB compared with that of healthy adjacent control tissue. 25695679 2015
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Comparison to previously published data on this series of HB revealed that the number of chromosomal imbalances was significantly higher in HB tumors with loss of heterozygosity on 11p (P = 0.03), whereas in five of 10 HB biopsies without chromosomal imbalances, beta-catenin gene mutations were found. 10934159 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Correction: mTOR inhibition affects Yap1-β-catenin-induced hepatoblastoma growth and development. 31645895 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease LHGDN Deregulation of the APC/beta-catenin pathway occurs in a consistent fraction of hepatoblastomas, with mutations in the APC and beta-catenin genes implicated in familial adenomatous polyposis-associated and sporadic hepatoblastomas, respectively. 17962810 2008
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease CTD_human Differential expression of glutamine synthetase and cytochrome P450 isoforms in human hepatoblastoma. 21237236 2011
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Here, we identify lipocalin 2 (Lcn2) as a target of β-catenin and YAP1 in HB and show that serum Lcn2 values positively correlated with tumor burden. 29920228 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Here, we investigated the oncogenic properties of 14 different HB- and non-HB-associated β-catenin mutants encoded by Sleeping Beauty vectors following their delivery into the mouse liver by hydrodynamic tail-vein injection. 31597698 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 AlteredExpression disease BEFREE However, variable survival rates of 60-80% and debilitating chemotherapy sequelae argue for more informed treatment selection, which is not possible by grading the Wnt-β-catenin over activity present in most HBL tumors. 27910913 2016
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Immunohistochemical analysis of beta-catenin in 11 HBs demonstrated nuclear/cytoplasmic accumulation of the protein in all tumors analysed, with predominant nuclear beta-catenin immunostaining in undifferentiated cells. 10698519 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In CTNNB1-mutated hepatoblastoma, expression of GS was only detected in tumour areas with epithelial, not with mesenchymal differentiation. 21237236 2011
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In conclusion, our data clearly identify protein stabilizing mutations of the β-catenin gene as a common feature of nested stromal epithelial tumors of the liver, similarly as in hepatoblastomas. 22749188 2012
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE In human liver tumor cells without beta-catenin mutations, Nkd-1 inhibited the Wnt-3a-activated Tcf-responsive-luciferase reporter activity, whereas Nkd-1 in hepatoblastomas with beta-catenin mutations had no antagonistic effect. 15958610 2005
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Interestingly, activating mutations of the beta-catenin gene have previously been identified in 48% of HBs, and more than 85% of HBs show accumulation of beta-catenin protein as the indicator for an activated pathway. 12649343 2003
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE It is therefore concluded that immunohistochemical analysis of beta-catenin might be a useful clinical tool for estimating the prognosis for patients with hepatoblastoma. 11276007 2001
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Moreover, the role of other signaling pathways in hepatoblastoma in association with Wnt/β-catenin has also been described. 31511432 2019