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 Biomarker group LHGDN [Expressions of beta-catenin, p53 and proliferating cell nuclear antigen in the carcinogenesis of colorectal adenoma]. 12515622 2002
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE With the combination of stabilized β-catenin and elevated Igf2 expression, adrenal glands were larger, displayed earlier onset of hyperplasia, and developed more frequent macroscopic adenomas (as well as one carcinoma). 22800756 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE With beta-catenin as a molecular marker, the adenoma-carcinoma sequence can be considered to be a minor pathway in gallbladder carcinogenesis. 11196159 2001
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 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 We sequenced PRKACA, GNAS and CTNNB1 genes in 108 patients, including 60 patients with CPAs (57 with unilateral and three with bilateral adenomas), 13 with nonfunctional adenomas, 12 with adrenocortical carcinomas (ACCs), 15 with primary bilateral macronodular hyperplasia (PBMAH) and eight with aldosterone and cortisol cosecreting adenomas. 27296931 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We searched for alterations in the APC mutation cluster region, the whole coding regions of TGF-beta type II receptor (RII) and beta-catenin exon 3 in 16 cases of cancer in adenomas of the colon. 9566701 1998
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We report, for the first time, beta-catenin mutations in adenomas associated with PPNAD, further implicating Wnt-beta-catenin signalling in tumorigenesis linked to bilateral adrenal hyperplasias. 18419788 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. 26663015 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE We report a case of a peliotic adenoma that was morphologically consistent with a β-catenin wild-type hepatocellular adenoma but harbored a β-catenin mutation by molecular analysis. 24997695 2014
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 Biomarker group BEFREE We evaluated the cellular localization of beta-catenin in thyroid carcinomas associated (n = 4) or not associated (n = 173) with FAP, since loss of functional protein of the adenomatous polyposis coli (APC) gene leads to nuclear accumulation of beta-catenin in adenomas and carcinomas of the FAP colon. 11092973 2000
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE We corroborated the Wnt/APC signalling pathway on the NT1 receptor promoter activation with human colon carcinogenesis, and showed that NT1 receptor gene activation was perfectly correlated with nuclear or cytoplasmic beta-catenin localization while NT1 receptor was absent when beta-catenin was localized at the cell-cell junction in early adenomas of patients with familial adenomatous polyposis, hereditary non-polyposis colorectal cancer and loss of heterozygosity tumours. 16299383 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Using human CRC cells harboring different Wnt/β-catenin pathway mutations in APC/KRAS or β-catenin/KRAS genes, and both genetic and pharmacological knockdown approaches, we show that oncogenic β-catenin signaling negatively regulates the expression of NHERF1 (Na<sup>+</sup>/H<sup>+</sup> exchanger 3 regulating factor 1), a PDZ-adaptor protein that is usually lost or downregulated in early dysplastic adenomas to exacerbate nuclear β-catenin activity. 29551770 2018
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 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 Biomarker group CTD_human Thus, beta-catenin mutations may have more importance in the genesis of adenomas than ACF or adenocarcinomas in rat colon carcinogens by PhIP. 10965019 2000
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 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 GeneticVariation group BEFREE These data support the following hypotheses derived from sporadic colorectal tumors: beta-catenin mutations are generally an alternative to mutations at APC, MSI is not usually an early phenomenon in colorectal tumorigenesis, and K-ras mutations are more typical of large- and moderate-sized adenomas. 10681434 2000
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE There was less loss of membranous beta-catenin staining and less nuclear beta-catenin accumulation in resistant adenomas compared with baseline adenomas from the same (sulindac-resistant) patients (P < 0.01) or baseline adenomas from responsive patients (P < 0.01). 11751493 2001
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 Biomarker group BEFREE The TCF4-binding regions significantly correlate with Wnt-responsive gene expression profiles derived from primary human adenomas and often behave as beta-catenin/TCF4-dependent enhancers in transient reporter assays. 18268006 2008
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 AlteredExpression group BEFREE The lower apoptotic activity of low-grade slightly elevated adenomas can be partly attributed to upregulated β-catenin pathway activity and downregulated c-Myc expression. 28533663 2017