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 Biomarker disease BEFREE When TEAD2 DNA-binding domain was fused with virus protein 16 transcriptional activation domain, it synergized with activated β-catenin to promote HB formation in vivo. 30794805 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Transcriptomic analysis showed a strong correlation in gene expression between HB in the Yap1-β-catenin model and HB patient cohorts. 30863496 2019
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 BEFREE Thus, we demonstrate that β-catenin point mutants can also collaborate with YAP1 in HB development, albeit with a distinct molecular profile from the deletion mutant, which may have implications in both biology and therapy. 30794807 2019
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE The Wnt/beta-catenin pathway is one of the major developmental pathways and is believed to play an important role in the pathogenesis of HB and CSC formation. 31547062 2019
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 GeneticVariation disease BEFREE The β-catenin mutation is frequently observed in hepatoblastoma (HB), but the underlying mechanism by which Wnt/β-catenin signaling induces HB tumor formation is unknown. 31462641 2019
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
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 Biomarker disease BEFREE The Wnt/β-catenin pathway plays a central role in the pathogenesis of most hepatoblastomas (HBs), that is, up to 60-80% carry activating CTNNB1 mutations. 29446530 2018
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 Biomarker disease BEFREE Recent studies suggest that activation of Yes-associated protein (YAP) is a major molecular event in HB development, as activated YAP synergizes with mutant β-catenin to promote HB formation in mice (YAP/β-catenin). 29088718 2017
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 Biomarker disease BEFREE We detected nuclear β-catenin immunostaining in nearly all untreated HBs, including in fetal and embryonal epithelial components and in mesenchymal elements. 28277286 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Nuclear β-catenin staining which is significantly common in embryonal elements in HB predicts shorter survival. 28631020 2017
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 AlteredExpression disease BEFREE Nuclear β-catenin expression was significantly associated with membranous epithelial cell adhesion molecule (EpCAM) expression in hepatoblastoma tumor specimens. 28851352 2017
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 GeneticVariation disease BEFREE To address their roles in the pathogenesis of HB, we generated mice in which Myc and mutant β-catenin were targeted to immature cells of the developing mouse liver. 27734029 2016
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 Biomarker disease BEFREE We transfected the parental HuH6 hepatoblastoma cell line with a doxycycline-inducible shRNA against CTNNB1 (gene coding for β-catenin) to obtain an isogenic cell line pair with or without aberrant β-catenin signaling. 26715116 2015
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE These findings suggested the activation of the Wnt pathway in HB, which was confirmed by immunohistochemical staining of the β-catenin in 42 HB tumors. 24912477 2014
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Whole-exome sequencing identified HB as a genetically very simple tumour (2.9 mutations per tumour) with recurrent mutations in ß-catenin (CTNNB1) (12/15 cases) and the transcription factor NFE2L2 (2/15 cases). 25135868 2014
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Small interfering RNA-mediated knockdown of Yap1 or β-catenin in hepatoblastoma cells reduced proliferation in an additive manner. 24837480 2014
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE The current observation of a somatic CTNNB1 mutation in a hepatoblastoma from a patient with a germline GPC3 mutation supports the notion that the mutation in GPC3 may influence one of the initial steps in tumorigenesis and the progression to hepatoblastoma. 24459012 2014
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