CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Fibromatosis, Aggressive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids. 18832571 2008
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE To investigate whether this hypothesis could be extended to other Wnt-dependent tumor types, we searched for WT1 mutations and studied WT1 expression in beta-catenin mutant desmoid tumors. 15540161 2005
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor). 9736021 1998
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Desmoid-type fibromatosis is characterized by CTNNB1 exon 3 mutations, which result in aberrant nuclear β-catenin localization and dysregulated canonical Wnt signaling. 27259010 2016
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1). 29330550 2018
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease LHGDN Taken together, we propose that TGF-beta is a modulator of beta-Catenin levels in tumoral fibroblasts and non-tumoral fibroblasts, despite the oncogenic mutations already present in this gene in tumoral fibroblasts of desmoid tumors. 17601559 2007
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). 15542524 2004
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease LHGDN Diffuse moderate or strong nuclear staining for beta-catenin was found in all desmoid tumors, 4 of 5 benign SFTs, and 2 of 6 malignant SFTs. 17090192 2006
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Tumor specimens from 14 patients surgically treated for aggressive fibromatosis (6 familial adenomatous polyposis and 8 sporadic cases), analyzed for adenomatous polyposis coli (APC) and CTNNB1 (beta-catenin) mutations, were further investigated for beta-catenin, cyclooxygenase-2 (COX-2), platelet-derived growth factor (PDGF) receptor alpha (PDGFRA)/PDGF receptor beta (PDGFRB), their cognate ligands (PDGFA and PDGFB), and KIT using a comprehensive immunohistochemical, biochemical, molecular, and cytogenetic approach. 17785554 2007
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease LHGDN CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids. 18832571 2008
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Thus, our case is the 19th pancreatic DTF and the second case with confirmed beta-catenin gene mutation. 26907785 2016
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE A novel case of a sporadic desmoid tumour with mutation of the beta catenin gene. 10655994 1999
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Three patients showed a CTNNB1 hotspot mutation (T41A, S45F, or S45N) in both the desmoid-type fibromatosis and the radiation-induced sarcoma. 26414222 2015
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Additionally, we expanded the spectrum of mutations in CTNNB1 with one novel desmoid mutation. 24206198 2014
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE We performed IHC of β-catenin and mutation analysis of CTNNB1 and APC in 18 paediatric desmoid tumours, diagnosed between 1990 and 2009 in the Erasmus MC, Rotterdam. 22305464 2012
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Low-dose chemotherapy with methotrexate and vinblastine for patients with desmoid tumors: relationship to CTNNB1 mutation status. 25899770 2015
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Taken together, we propose that TGF-beta is a modulator of beta-Catenin levels in tumoral fibroblasts and non-tumoral fibroblasts, despite the oncogenic mutations already present in this gene in tumoral fibroblasts of desmoid tumors. 17601559 2007
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE We report a case of intrathoracic desmoid tumor without familial adenomatous polyposis and demonstrate beta-catenin mutation of exon 3. 16131791 2006
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 mutations were observed in 223 of 254 (88%) of sporadic desmoid tumors. 22766794 2012
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE There are somatic mutations of the APC and beta-catenin gene in desmoid-type fibromatosis, and there are abnormalities in the Wnt signalling pathway. 17558858 2007
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Isolated and cultured desmoid tumor cells harboring any one of the CTNNB1 mutation status had unique characteristics, and could be useful to investigate desmoid tumors with different mutation status of CTNNB1. 26686699 2016
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 mutations associated to miRNA dysregulation could affect the genesis and the progression of this disease and help histological diagnosis of sporadic DTs. 28418912 2017
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: an independent, multicenter validation study. 23913621 2013
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE No differences in the expression levels of Wnt target genes were observed between the different CTNNB1 mutation types in DTF tumors. 30528042 2019
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 mutations are indeed common in sporadic desmoid tumors. 23960186 2013