CTNNB1, catenin beta 1, 1499

N. diseases: 412; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Activating mutations in CTNNB1 in aldosterone producing adenomas. 26815163 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding β-catenin in the Wnt cell-differentiation pathway, and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more than 100 times as high as the levels in other aldosterone-producing adenomas. 26397949 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Together, this may suggest that two molecular pathways, intermediate methylation associated with KRAS mutations and LST-G morphology, and low methylation associated with CTNNB1 activation and LST-NG morphology, might be involved in LST development, and that involvement of TP53 mutations could be important in both subtypes in the development from adenoma to cancer. 24590867 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE CTNNB1 mutations were only found in two intestinal-type adenomas (4%). 23208952 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Successive increases in the expression of ctnnb1 (beta-catenin) from normal to tubular adenomas to villous adenomas was seen. 20514431 2010
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We show here that in this patient with mild GSDIa without recurrent hypoglycaemic episodes, adenoma and carcinoma formation still occurred and that malignant transformation of adenoma here is associated with CTNNB1 mutations and a typical mRNA profile of a beta-catenin activated lesion. 20447711 2010
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE An advanced invasive non-functioning adrenocortical carcinoma carried a somatic heterozygous BRAF V600E mutation, while 4 functioning and 4 non-functioning adenomas and 3 functioning carcinomas carried different CTNNB1 activating mutations. 19498322 2010
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Sequencing of genomic DNA extracted from a subset of hyperplastic polyps, SSAs, SSAs with dysplasia, TSAs and tubular adenomas failed to identify any CTNNB1 mutations to account for abnormal beta-catenin nuclear labeling. 19745699 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Nuclear translocation of beta-catenin protein in the PPNAD adenoma suggests activation of the Wnt-beta-catenin pathway in PPNAD. 18419788 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE No mutations or deletions were seen in exon 3 of the beta-catenin gene for either the adenomas or the carcinoma. 18246041 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE In CTNNB1 exon 3, we detected a stabilizing mutation (S37A) in 3 out of 20 analyzed adenomas. 18541010 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Activation of the Wnt pathway by conditionally deleting exon 3 of the beta-catenin gene at an early stage of enteroendocrine cell differentiation induced small-intestinal adenomas expressing serotonin, a feature not previously described in other tumors induced by Wnt in mice. 17592150 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group LHGDN Nuclear beta-catenin expression was significantly greater in Multiple colorectal adenoma patients'tumours than in sporadic adenomas. 17505512 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Here, we focused our investigation on the beta-catenin gene which is implicated in colorectal carcinogenesis and tested whether beta-catenin mRNA is detectable in the plasma of colorectal carcinoma and adenoma patients using quantitative reverse transcriptase-PCR. 15014011 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE No mutation of exon 3 of the beta-catenin gene was found in 16 GH cell adenomas with prominent fibrous bodies or in 10 other subtypes of pituitary adenomas that showed unremarkable intracellular presence of beta-catenin protein. 12665652 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE CTNNB1 mutations were found in 2/19 adenomas without APC mutation. 12737446 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group LHGDN CTNNB1 mutations were found in 2/19 adenomas without APC mutation. 12737446 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group LHGDN beta-catenin, p53 and PCNA may play important roles in the carcinogenesis of colorectal adenoma. 12515622 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE An important role for beta-catenin pathways in colorectal carcinogenesis was first suggested by the protein's association with adenomatous polyposis coli (APC) protein, and by evidence of dysregulation of beta-catenin protein expression at all stages of the adenoma-carcinoma sequence. 11839557 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group LHGDN beta-catenin, which participates in the Wnt signaling pathway, might play a more important role in the formation of hepatic adenoma than in that of focal nodular hyperplasia. 12297840 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE The results of the current study suggest that up-regulation of the Wnt signaling pathway, including accumulation of mutant CTNNB1 in the nuclei, plays an important role in the tumorigenesis and development of adenoma in the pituitary gland. 11148558 2001
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE Because alterations of the adenomatous polyposis coli (APC) gene are present in biliary tract cancers and the APC protein modulates levels of beta-catenin, we evaluated the role of beta-catenin in biliary tract cancer by sequencing the third exon of the beta-catenin gene among 107 biliary tract cancers and 7 gallbladder adenomas from a population-based study in CHINA: Point mutations of serine or threonine phosphorylation sites in exon 3 of beta-catenin were present in 8 of 107 (7.5%) biliary tract cancers and 4 of 7 (57.1%) gallbladder adenomas. 11309300 2001
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE We confirmed accumulation of aberrant beta-catenin protein in cytoplasm and nuclei of adenoma cells by immunohistochemical analysis. 10974408 2000
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 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: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Immunohistochemical methods were used to determine the relationship between APC and beta-catenin protein expression in human colonic tissues (150 normal, 9 hyperplastic, 58 adenomas and 83 carcinomas) and 12 paired samples of normal and cancer tissue in mouse colon. 11062151 2000