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 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
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Thus, genetic defects that result in up-regulation of beta-catenin may play a role in melanoma progression. 9065403 1997
CUI: C0025202
Disease: melanoma
melanoma
0.500 CausalMutation disease CLINVAR Stabilization of beta-catenin by genetic defects in melanoma cell lines. 9065403 1997
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 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 GeneticVariation disease BEFREE Recently, oncogenic beta-catenin mutations were described in human colorectal cancer and melanoma cell lines. 9591632 1998
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Mutations of the beta-catenin gene (CTNNB1) have recently been implicated in the initiation of some colon carcinomas and melanomas. 9537226 1998
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
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 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 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