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: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE beta-catenin mutations have been found not only in melanoma and prostatic carcinoma but also in hepatocellular carcinomas in human, c-myc, H-ras genes transgenic mice and chemically-induced models. 10811985 2000
CUI: C0025202
Disease: melanoma
melanoma
0.500 PosttranslationalModification disease BEFREE Beta-catenin is tyrosine phosphorylated in three melanoma cell lines and associates with both the ErbB2 receptor tyrosine kinase and the LAR receptor tyrosine phosphatase. 11245482 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE β-catenin is a main driver in melanocyte development; although infrequently mutated in melanoma, its cellular localization and activity are frequently altered. 28191677 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE β-Catenin-mediated immune evasion pathway frequently operates in primary cutaneous melanomas. 29664013 2018
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Beta-catenin has been identified as an oncogene in colon cancer and melanoma. 9377556 1997
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE A multifactorial analysis using Cox's regression model revealed that β-catenin, lymphoid enhancer-binding protein-1, heparanase-1, and the TNM stage were all independent factors in malignant melanoma (risk ratios were 7.294, 5.550, 5.622, and 4.794; p-values were 0.007, 0.018, 0.018, and 0.029, respectively). 25343173 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE A proportion of APC wild-type colon carcinomas and melanomas also contains constitutive nuclear Tcf-4/beta-catenin complexes as a result of dominant mutations in the N terminus of beta-catenin that render it insensitive to downregulation by APC, GSK3 beta, and Axin/Conductin. 10549354 2000
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE A significant fraction of primary human melanomas exhibit deregulation (via aberrant nuclear accumulation) of beta-catenin, leading us to examine its role in melanoma growth and survival. 12235125 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Although the role of WNT/β-catenin pathway in melanoma was early demonstrated, its contribution to the lack of the melanoma patient response to treatment was only recently recognized. 27351373 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Brn-2 expression controls melanoma proliferation and is directly regulated by beta-catenin. 15024079 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Cell lines harboring mutant B-RAF or N-RAS were equally sensitive to LY2090314 as were those with acquired resistance to the BRAF inhibitor Vemurafenib. shRNA studies demonstrated that β-catenin stabilization is required for apoptosis following treatment with the GSK3 inhibitor since the sensitivity of melanoma cell lines to LY290314 could be overcome by β-catenin knockdown. 25915038 2015
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Collectively, our findings support the notion that targeting the oncogenic β-catenin by lycorine is a new option to inhibit melanoma cell metastasis, providing a good drug candidate potential for development novel therapeutics against metastatic melanoma. 30565685 2019
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease LHGDN Compartmentalization in membrane rafts defines a pool of N-cadherin associated with catenins and not engaged in cell-cell junctions in melanoma cells. 17668445 2008
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease LHGDN Concomitantly, an increase in the nuclear level of beta-catenin occurred in melanoma cells, together with a sixfold increase in beta-catenin-dependent transcription. 15987741 2005
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Congruently, the transcriptional activity of β-catenin regulating expression of β-catenin target genes was not observed in several melanoma cell lines. 21584489 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease LHGDN CTLA-4 is a direct target of Wnt/beta-catenin signaling and is expressed in human melanoma tumors. 18563180 2008
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma. 11351304 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Directing this test to a single disease, 90 of 150 (60%) melanomas from sites throughout the body harbored a mutation tested, including 57, 23, 6, 3, and 2 mutations in BRAF, NRAS, GNAQ, KIT, and CTNNB1, respectively. 22536370 2012
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE E-cadherin, H-cadherin and β-catenin, prevalently found to be downregulated in melanoma, were diminished in MBrc. 21496114 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease LHGDN Expression of Wnt5a, MMP7, and beta-catenin was determined in 40 primary uveal melanomas by immunohistochemistry and correlated with patient prognosis. 17992121 2007
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Fifty percent of the hepatic tumors in these transgenic mice had activating somatic mutations within the beta-catenin gene similar to those found in colon cancers and melanomas. 9671767 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma. 10027390 1999
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Genetic and epigenetic alterations of the APC gene in malignant melanoma. 15133491 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Here we report the isolation of a cDNA clone encoding beta-catenin, which was shown to be recognized by the tumor-infiltrating lymphocyte (TIL) 1290, a HLA-A24 restricted melanoma-specific CTL line from patient 888. 8642260 1996