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 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 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 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 GeneticVariation disease LHGDN Canonical WNT signalling determines lineage specificity in Wilms tumour. 19137020 2009
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 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 GeneticVariation disease BEFREE We also describe, for the first time, a small, constitutive partial gain of 3p22.1 comprising 2 exons of CTNNB1, a gene associated to WT. 26317783 2015
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 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 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 Biomarker disease BEFREE Mutations were detected in previously described WT "hot spots" (e.g., WT1 and CTNNB1) as well as novel loci that may be unique to the Iraqi population. 30155617 2018
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 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 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 Biomarker disease CTD_human GS expression was not observed in CTNNB1-mutated nephroblastoma. 21237236 2011
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.400 Biomarker disease BEFREE β-catenin, an important gene in the Wnt canonical pathway, was downregulated after WT1 RNAi. 25310451 2014
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 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 Biomarker disease BEFREE Wilm's tumor 1 (WT1) has been found to have opposing roles with β-catenin in podocyte biology. 28315733 2017
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 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 Biomarker disease CTD_human A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. 28825729 2017
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 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