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: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group LHGDN However, nuclear beta-catenin expression was significantly greater in MCRA patients' tumours than in sporadic adenomas. 17505512 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE However, immunohistochemical studies of β-catenin in sessile serrated adenomas have shown wide variability, producing conflicting results on Wnt signalling activation in sessile serrated adenomas. 22412046 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Dual staining emphasized the strong interaction of β-catenin and NICD in adenoma and adenocarcinoma than in normal tissues. 25073953 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Dysplastic adenomas accumulate β-catenin and lose heterozygosity of APC. 22864254 2012
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 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Tumors represented adenoma stages along with the nuclear accumulation of β-catenin. 27037682 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE These findings suggest that, following APC loss, CtBP1 contributes to adenoma initiation as a first step, whereas KRAS activation and beta-catenin nuclear localization promote adenoma progression to carcinomas as a second step. 19450512 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE An identical CTNNB1 mutation was identified in the 1996 liver tumor together with a TERT promoter mutation showing that this hepatocellular carcinoma results from the malignant transformation of the initial β-catenin inflammatory adenoma. 27984126 2017
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 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 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 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 In addition to these specific pathways, the Wnt/β-catenin pathway appears to play an important role in adrenal tumorigenesis, because β-catenin mutations have been identified in both aldosterone- and cortisol-producing adenomas. 28973103 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE These suggest that alteration of other genes is primarily responsible for the nuclear translocation of beta-catenin in gastric adenomas. 12926124 2003
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Advanced traditional serrated adenomas retained MLH1 expression in 97%, showed strong p53 staining in 55%, and nuclear β-catenin staining in 40%. 25216220 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker 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 AlteredExpression group BEFREE In all eight patients, beta-catenin was immunostained at the membranes of the cell-to-cell borders in normal epithelial cells, whereas the nuclei and cytoplasms stained intensely in addition to the membranes in both adenoma and cancer cells. beta-Catenin expression levels in tumor tissues were over three times higher than those in corresponding normal mucosae of all of the three patients, whose resected specimens were available for quantitative immunoblot analysis. 8616874 1996
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We found that SHARP gene and protein expression is elevated in human colon and ovarian endometrioid adenocarcinomas and mouse colon adenomas and carcinomas carrying gene defects leading to beta-catenin dysregulation. 17234755 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE We show that D3 is a direct transcriptional target of the β-catenin/TCF complex; its expression was higher in human intestinal adenomas and carcinomas than in healthy intestinal tissue. 22771508 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE A strong topographical correlation was noted between human defensin 5 expression and nuclear beta-catenin expression in conventional adenomas and in conventional dysplastic epithelium of mixed polyps. 19269007 2009
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Our purpose was the evaluation of microsatellite stability status within conventional colon adenomas and also β-catenin, BRAFV600E and p53 contribution. 28234922 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Subsequent Northern blotting, real-time reverse transcription-PCR, and in situ hybridization analysis confirmed their induction in beta-catenin-activated epithelial cells of murine adenomas. 16488993 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Notably, nuclear accumulation of beta-catenin was observed only in adenomas and highly differentiated carcinomas with eosinophilic phenotype. 11280770 2001
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 Obese patients mainly develop inflammatory and β-catenin activated (highest risk for malignant transformation) adenomas. 27780309 2018