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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Aberrant activation of Wnt signaling caused by mutations in the tumor suppressor adenomatous polyposis coli or beta-catenin is a critical event in the development of human colorectal tumors. 12417602 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group LHGDN The APC/beta-catenin pathway in ulcerative colitis-related colorectal carcinomas: a mutational analysis. 11920497 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 AlteredExpression group LHGDN Nuclear beta-catenin expression is closely related to ulcerative growth of colorectal carcinoma. 11953860 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 AlteredExpression group LHGDN Elevated protein expression of cyclin D1 and Fra-1 but decreased expression of c-Myc in human colorectal adenocarcinomas overexpressing beta-catenin. 12209953 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 AlteredExpression group BEFREE These results suggest that although there may be a number of mechanisms responsible for changes in beta-catenin expression in colorectal tumors, dysfunction of APC may be the major cause of this phenomenon. 11956815 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Aberrant activation of Wnt signaling caused by mutations in adenomatous polyposis coli (APC) or beta-catenin is a critical event in the development of human colorectal tumors. 12036951 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE Mutations in APC and beta-catenin, despite occurring in the same genetic pathway, show differing biological properties, a phenomenon that has previously been demonstrated in colorectal neoplasms. 12414520 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 AlteredExpression group BEFREE TCF-4 and beta-catenin form a transcription complex, which is important for both maintenance of normal epithelium and development of colorectal tumors. 12036905 2002
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Alterations of phosphorylation sites within the CTNNB1 gene, which codes for beta-catenin has been reported to occur in about one-half of colorectal tumors without APC-gene mutations. 11454429 2001
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group CTD_human More frequent beta-catenin gene mutations in adenomas than in aberrant crypt foci or adenocarcinomas in the large intestines of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP)-treated rats. 10965019 2000
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE We therefore used PCR to amplify and sequence exon 3 of beta-catenin from 202 sporadic colorectal tumors. 10197610 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Frequent mutation of beta-catenin and APC genes in primary colorectal tumors from patients with hereditary nonpolyposis colorectal cancer. 10493496 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Some colorectal tumors with wild-type adenomatous polyposis coli gene have activating mutations in beta-catenin (encoded by CTNNB1) that result in decreased phosphorylation by GSK-3beta and increased signaling through the Tcf/Lef transcription factors. 10416591 1999
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 GeneticVariation group BEFREE Our results indicate that somatic beta-catenin activating mutations contribute only to a minor part of human colorectal tumors and that germline beta-catenin mutations do not play a role in the variability of symptoms in FAP. 9591632 1998
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 Biomarker group BEFREE It is concluded that the patterns of expression of E-cadherin and alpha- and beta-catenin are very similar in colorectal neoplasms. 9349236 1997