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 Biomarker disease BEFREE In summary, we conclude that loss of E-cadherin and cytoplasmatic beta-catenin induces p38-mediated NFkappaB activation, potentially revealing an important mechanism of tumorigenesis in malignant melanomas. 15378016 2004
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE We systematically examined melanoma cell lines for activating CTNNB1 mutations as well as genetic and epigenetic alterations of the adenomatous polyposis coli gene (APC), another key component of the Wnt signalling transduction pathway. 15133491 2004
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 AlteredExpression disease BEFREE Overexpression of the tumor suppressor gene melanoma differentiation-associated gene-7 (mda-7) induces apoptosis in many cancer cells, and adenoviral-mediated overexpression of mda-7 downregulates beta-catenin and PI 3-kinase signaling in breast cancer cells. 15300212 2004
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 LHGDN Mutational analysis of CTNNB1 identified somatic mutations in 1 primary melanoma and 1 melanoma metastasis from 2 different patients (5%). 12124804 2002
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 To determine whether this difference in mutation frequency reflected an in vitro culturing artefact, exon 3 of CTNNB1 was screened in a panel of 62 melanoma cell lines. 11930117 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE The results indicate that induction of Nr-CAM transcription by beta-catenin or plakoglobin plays a role in melanoma and colon cancer tumorigenesis, probably by promoting cell growth and motility. 12183361 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Mutational analysis of CTNNB1 identified somatic mutations in 1 primary melanoma and 1 melanoma metastasis from 2 different patients (5%). 12124804 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR One out of 62 (1.6%) cell lines was found to carry a mutation, indicating that aberration of the Wnt-1/wingless pathway through activation of beta-catenin is a rare event, even in melanoma cell lines. 11930117 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Immunohistochemistry revealed a significant loss of membranous beta-catenin staining between the primary and metastatic melanomas as well as between radial and vertical growth phase. 11950921 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations. 11950921 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease LHGDN One out of 62 (1.6%) cell lines was found to carry a mutation, indicating that aberration of the Wnt-1/wingless pathway through activation of beta-catenin is a rare event, even in melanoma cell lines. 11930117 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease LHGDN Moreover, suppression of melanoma clonogenic growth by disruption of beta-catenin-T-cell transcription factor/LEF is rescued by constitutive MITF. 12235125 2002
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Mutational analysis of CTNNB1 identified somatic mutations in 1 primary melanoma and 1 melanoma metastasis from 2 different patients (5%). 12124804 2002
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 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 Biomarker disease BEFREE Thus, beta-catenin exon 3 mutations are rare in primary as well as metastatic melanomas and do not explain the abnormal cytoplasmic and nuclear localization of beta-catenin found in a relatively large fraction of primary melanomas. 11351304 2001
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE However, it has been recently reported that beta-catenin mutations are rare in primary malignant melanoma, but its nuclear and/or cytoplasmic localization, a potential indicator of Wnt/beta-catenin pathway activation, is frequently observed in melanoma (Rimm et al., Am.J.Pathol., 154, 325-329, 1999). 11594745 2001
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 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 GeneticVariation disease BEFREE Our findings demonstrate that beta-catenin mutations are rare in primary melanoma, in contrast to the situation in melanoma cell lines. 10027390 1999
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 Biomarker disease BEFREE Mutant forms of beta-catenin have been discovered in colon cancers that retain wild-type APC genes, and also in melanomas, medulloblastomas, prostate cancer and gastric and hepatocellular carcinomas. 10201372 1999