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 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 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 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 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 To address beta-catenin's capability in maintaining the malignant phenotype in established pediatric HB and HCC cell lines, HuH-6 and HepG2, harboring mutated and overexpressed beta-catenin, we carried out a series of in vitro analyses through a transfection of short interfering RNAs (siRNAs) to generate a loss-of-function model. 16465377 2006
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 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 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 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 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 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 GeneticVariation disease BEFREE Tumors derived from 56 HBL cases treated with the Japanese Study Group for Pediatric Liver Tumors (JPLT) Protocol-2 were analyzed for oncogenic mutations (missense mutations and interstitial deletions in the third exon) of the CTNNB1 gene-encoding β-catenin and for the expression levels of telomerase reverse transcriptase (TERT). 22152854 2011
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 All 3 (100%) mixed epithelial and mesenchymal HBL harbored CTNNB1 mutation. 29079173 2017
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 Biomarker disease BEFREE Recently, disregulation of the Wnt/beta-catenin pathway, attributable to abnormalities of the beta-catenin gene, has been reported to be a major event in the development of hepatocellular carcinomas and hepatoblastomas. 12203220 2002
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 Somatic mutations of beta-catenin play a crucial role in the tumorigenesis of sporadic hepatoblastoma. 10754205 2000
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Overexpression of Tbx3 is closely associated with the mutational status of beta-catenin in murine liver tumors induced by Myc as well as in human hepatocellular carcinomas and hepatoblastomas. 17283120 2007
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 CausalMutation disease CGI
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 CausalMutation disease CLINVAR
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 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 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