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 BEFREE Membraneous beta-catenin expression was significantly reduced in both FAP (30%; 11-49) and sporadic (42%; 19-65) adenomas (normal controls 96%; 88-104), whereas marked nuclear staining occurred in sporadic, but not in FAP adenomas. 14986031 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression 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 GeneticVariation group BEFREE No oncogenic beta-catenin mutations were identified in 34 MSI+ and 78 microsatellite stable (MSI-) sporadic colorectal cancers but a raised mutation frequency (8/44, 18.2%) was found in HNPCC cancers; this frequency was significantly higher than that in HNPCC adenomas (p=0.035) and in both MSI- (p<0.0001) and MSI+ (p=0.008) sporadic cancers. 15647192 2005
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE The clinical, pathological, and immunophenotypic (hMLH1, hMSH2, MGMT, MIB-1, p53, and beta-catenin) properties of 28 mixed hyperplastic and adenomatous polyps of the colon (7 of which also contained carcinoma within the same lesion) were evaluated for the above immunopeptides in each of the different morphologic areas of the polyps, and the results were compared to traditional hyperplastic polyps, serrated adenomas, and conventional (nonserrated) adenomas. 15712188 2005
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 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 GeneticVariation group BEFREE In conclusion, the molecular and pathological classification of hepatocellular adenomas permits the identification of strong genotype-phenotype correlations and suggests that adenomas with beta-catenin activation have a higher risk of malignant transformation. 16496320 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 GeneticVariation group BEFREE BRAF and beta-catenin mutations were detected in 3 and 8% of the 101 flat-type adenomas, respectively. 17143260 2007
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 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 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 Biomarker group BEFREE In addition, cytoplasmic and/or nuclear accumulation of beta-catenin was observed in mutated adenomas by immunohistochemistry. 17854394 2008
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 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 Biomarker group BEFREE Immunohistochemical analysis of adenomas revealed increased nuclear beta-catenin accumulation in adenomas from Rassf1a(-/-); Apc(+/Min) mice, compared to those from Rassf1a(+/+); Apc(+/Min) mice, but no differences in proliferation marker (Ki67) staining patterns. 18391979 2008
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 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 AlteredExpression group BEFREE CXCL8 expression correlated with nuclear beta-catenin localization in epithelial cells of adenomas, but was associated with endothelial cells and neutrophils in the adenocarcinomas. 19173296 2009
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 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 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 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 Immunostaining of beta-catenin was performed in all carcinomas and in 66 adenomas (including three atypical). 19755524 2010
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 AlteredExpression group BEFREE Furthermore, we found that adenomas bearing truncated Apc had increased beta-catenin activity when compared with tumors lacking Apc protein, which could lead to context-dependent inhibition of tumorigenesis. 20010873 2010
CUI: C0001430
Disease: Adenoma
Adenoma
0.400 Biomarker group BEFREE Increased cytoplasmic and/or nuclear beta-catenin staining was seen in 94% and 80% of the adenomas. beta-Catenin nuclear staining was strongly associated with MYC levels (p value 0.03) but not with KRAS mutations.Copy number aberrations were rare. 20196079 2010