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 Using single-strand conformational polymorphism analysis, deletion screening by PCR, and direct sequencing, we found a high frequency of beta-catenin mutations in sporadic HBs (48%). 9927029 1999
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 Biomarker disease BEFREE Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type. 10398436 1999
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 Somatic mutations of beta-catenin play a crucial role in the tumorigenesis of sporadic hepatoblastoma. 10754205 2000
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 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 Thus, our present results suggested that the gain of function mutation of beta-catenin played a crucial role in the malignant progression of HBL in vivo. 11309340 2001
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 To explore the contribution of additional Wnt pathway molecules to hepatocarcinogenesis, we examined beta-catenin, AXIN1 and AXIN2 mutations in 73 HCCs and 27 HBs. beta-catenin mutations were detected in 19.2% (14 out of 73) HCCs and 70.4% (19 out of 27) HBs. beta-catenin mutations in HCCs were primarily point mutations, whereas more than half of the HBs had deletions. 12101426 2002
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 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 GeneticVariation disease BEFREE These observations suggest that accumulation of beta-catenin without an additional somatic mutation in the APC gene might be a possible mechanism for tumorigenesis of hepatoblastoma in the FAP families. 14654913 2004
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 AlteredExpression disease BEFREE The beta-catenin mutations are identified in up to 30% of HCC and 80% of hepatoblastoma, suggesting a potential role of beta-catenin in the pathogenesis of liver cancers. 14767485 2004
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 GeneticVariation disease BEFREE Recent evidences have suggested that the abnormalities in Wnt signaling pathway, as seen in frequent mutation of the beta-catenin gene, may play a role in the genesis of hepatoblastoma. 15221005 2004
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 The upregulation of REG3A and REG1A expression is significantly correlated to the beta-catenin status in 42 HCC and 28 hepatoblastomas characterized for their beta-catenin status. 16314847 2006
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 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 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 BEFREE The Wnt/beta-catenin/T-cell factor (Tcf) pathway is aberrantly up-regulated in the majority of colorectal cancers (CRC) and hepatoblastomas due to either an APC or beta-catenin gene mutation. 17047077 2006
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
0.700 AlteredExpression disease BEFREE Our findings are consistent with a relationship between poor histologic phenotype and beta-catenin activation, indicating the potential utility of targeted gene expression assays to identify molecular events related to the pathogenesis and prognosis of hepatoblastomas. 17163162 2006
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