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 CausalMutation disease CLINVAR
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease UNIPROT
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 CausalMutation disease CGI
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE <b>Conclusions:</b> Our results provide new insight into the mechanisms underlying hyperactivation of the Wnt/β-catenin pathway in HCC, as well the oncogenic ability of TFAP4 to enhance the tumor-forming ability of HCC cells. 30026867 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE <b>Rationale:</b> Hepatocellular carcinoma (HCC) is an aggressive malignant solid tumor wherein CDK1/PDK1/β-Catenin is activated, suggesting that inhibition of this pathway may have therapeutic potential. 30083256 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE HCC is associated with a series of molecular changes, as alternation in glypican-3, P53 expression and Wnt/β-catenin pathway. 29429512 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE Beta-catenin mutations in hepatocellular carcinoma correlate with a low rate of loss of heterozygosity. 10435629 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Beta-catenin, cyclin D1 and c-Myc, genes related to Wnt pathway, were upregulated in the liver tissues from both 11 weeks and HCC stage of Gnmt-/- mice. 19035462 2009
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE CTNNB1 mutations were significantly associated with young age (P=0.019) and moderately/poorly differentiated HCV-related HCC (P=0.015). 23583669 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE β-Catenin and prothymosin alpha (PTMA) are overexpressed in HCC and other tumors. 26517516 2015
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 CTNNB1 mutations were not identified in any HCC-IS, while they were present in 24.1% of C-HCC (p = 0.016). 30930222 2019
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 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: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE A majority of human colorectal tumors and hepatomas are known to possess a constitutively active canonical Wnt/beta-catenin/TCF signaling pathway, also express CR-1. 17291450 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE A number of recently published NGS studies on HCCs have not only confirmed previously known mutations in CTNNB1 and TP53 in HCC, but also identified novel genetic alterations in HCC including mutations in genes involved in epigenetic regulation. 23063663 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE A series of nine CC, 15 HCC-CC and three separated HCC and CC lesions ('collision tumors') were screened for loss of heterozygosity (LOH) using 400 microsatellite markers and for p53 and beta-catenin mutations. 15288479 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE A total of 89 HCC samples were analyzed in this study to determine how alterations in the Wnt signaling pathway associate with the carcinogenesis of HCC. beta-catenin immunohistochemistry showed positive nuclear staining in 24 (27.0%) of the 89 HCC samples, indicating the existence of alterations in the Wnt signaling pathway in those 24 HCC samples. 15067328 2004
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 AlteredExpression disease BEFREE Aberrant activation of β-catenin and Yes-associated protein (YAP) signaling pathways has been associated with hepatocellular carcinoma (HCC) progression. 30041665 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 Biomarker disease BEFREE Aberrant expression of the Wnt-beta-catenin pathway and enzymes for DNA replication also could contribute to the pathogenesis of HCC. 11752456 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 AlteredExpression disease BEFREE Abnormal nuclear expression of beta-catenin was observed in 11 of 36 cases of HCCs (30.6%), but not in cirrhotic nodules. 18171349 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation disease BEFREE About half the HCCs with AXIN1 or AXIN2 mutations showed beta-catenin accumulation in the nucleus, cytoplasm or membrane. 12101426 2002