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: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE To assess the relationship of WT1 mutations vis-à-vis beta-catenin mutations in Wilms tumor, we analyzed 153 primary tumors, and 21 of 153 (14%) carried beta-catenin mutations. 11103785 2000
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Implication of beta-catenin mutations in WT was investigated in 24 tumors collected from 20 WT patients. 12239584 2002
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 AlteredExpression disease BEFREE This study has analysed the intracellular levels and subcellular distribution of beta-catenin protein in 36 primary Wilms' tumour specimens and has correlated these results with the mutational status of the beta-catenin gene. 12474228 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE In addition, as the beta-catenin mutation is frequently associated with the WT1 mutation, the association of WT1 silencing with the beta-catenin mutation was also investigated. beta-catenin mutated in only one WT without WT1 silencing, suggesting that the beta-catenin mutation was not associated with the reduction of WT1 expression. 12761165 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Inhibition of breast cancer cell growth by the Wilms' tumor suppressor WT1 is associated with a destabilization of beta-catenin. 14666652 2004
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE This overlap in mutation pattern of WT1 and beta-catenin in Wilms' tumor suggests that these 2 genes may collaborate in the genesis of a subset of Wilms' tumors. 15540161 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Microsatellite analysis of APC and immunoexpression of beta catenin did not provide significant pathological or prognostic information in this cohort of nephroblastomas. 15623481 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Deregulation of the Wnt signalling pathway is a key event in the development of a broad spectrum of human malignancies and mutations in beta-catenin (CTNNB1), a central component of the Wnt pathway, have been detected in 10-15% of Wilms tumors (nephroblastoma). 15737694 2005
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Immunohistochemistry was also performed to investigate how the mutations in beta-catenin alter the localisation in Wilms tumour development. 17172473 2007
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Cytoplasmic beta-catenin accumulation was demonstrated in two papillary carcinomas, one neuroblastoma-associated carcinoma, and two carcinomas arising from nephroblastoma. 17873895 2007
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Clinical relevance of mutations in the Wilms tumor suppressor 1 gene WT1 and the cadherin-associated protein beta1 gene CTNNB1 for patients with Wilms tumors: results of long-term surveillance of 71 patients from International Society of Pediatric Oncology Study 9/Society for Pediatric Oncology. 18618575 2008
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease LHGDN Canonical WNT signalling determines lineage specificity in Wilms tumour. 19137020 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Based on characterization of both genomic and expression status of WT1 and CTNNB1 (beta-catenin) in a series of 60 Wilms tumor samples, combined with genome-wide expression profiling of these tumors, normal mature and fetal kidney controls, we show that WT1/beta-catenin expression was a better classifier than WT1/CTNNB1 mutations. 19530245 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Wilms' tumor (WT), the most common pediatric renal malignancy, is associated with mutations in several well-characterized genes, most notably WT1, CTNNB1, WTX, and TP53. 20332316 2010
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease CTD_human GS expression was not observed in CTNNB1-mutated nephroblastoma. 21237236 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE GS expression was not observed in CTNNB1-mutated nephroblastoma. 21237236 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 GeneticVariation disease BEFREE Genes identified as being mutated in Wilms' tumour include TP53, a classic tumour suppressor gene (TSG); CTNNB1 (encoding β-catenin), a classic oncogene; WTX, which accumulating data indicate is a TSG; and WT1, which is inactivated in some Wilms' tumours, similar to a TSG. 21248786 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE In contrast, FZD7-resistant WT in which no cell death was induced showed a different intra-cellular route of the Ab-FZD7 complex compared with sensitive tumors and accumulation of β-catenin. 21472018 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 AlteredExpression disease BEFREE Introduction of a stabilizing β-catenin mutation restricted to the kidney is sufficient to induce primitive renal epithelial tumors; however, when compounded with activation of K-RAS, the mice develop large, bilateral, metastatic, multifocal primitive renal epithelial tumors that have the histologic and staining characteristics of the epithelial component of human WT. 21983638 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE One blastema-type nephroblastoma showed nuclear localisation of β-catenin in conjunction with LOH of the APC gene. 22081130 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Abnormalities of WT1, WTX and CTNNB1, and loss of IGF2 imprinting (LOI) were detected in 31.6%, 22.8%, 26.3%, and 21.1% of the 114 WTs, respectively. 22409817 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE Other genes frequently altered somatically in subsets of WT are CTNNB1 and WTX; both genes influence the Wnt signalling pathway. 22461142 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE The 17.94 cell line contained a TP53 mutation, consistent with the anaplastic histology of the original tumor, but lacked mutations in WT1, WTX, or CTNNB1, which are the other genes involved in WT pathogenesis. 22749038 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 AlteredExpression disease BEFREE Somatic mutations in exon 3 of CTNNB1, which encodes β-catenin, were initially observed in 15% of WT. 23117548 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE At least three different pathways are involved in Wilms tumor; this review represents the outcome of the workshop discussion on the WNT/β-catenin pathway in Wilms tumorigenesis. 24258344 2013