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 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 Genetic tumor characteristics may be predictive of recurrence; hence, the prognostic value of three specific mutations on the CTNNB1 gene was evaluated in relation to known clinicopathologic risk factors in patients with primary, sporadic AF. 25341748 2015
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE The finding of low-frequency CTNNB1 mutation or APC loss in wild-type desmoids was validated in the remaining eight wild-type desmoids; directed miSeq identified low-frequency CTNNB1 mutation in four and comparative genomic hybridization identified APC loss in one. 26171757 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 Aggressive fibromatosis (AF) is a rare fibroblastic proliferative disease with a locally aggressive behavior and no distant metastasis, characterized by driver mutations in CTNNB1 or the APC gene. 25174682 2014
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE The CTNNB1 mutation status was of significant prognostic value for meloxicam treatment in patients with sporadic desmoid tumors. 24788118 2014
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE The pathogenesis of DF is not completely understood even if a high prevalence (∼85%) of CTNNB1 mutations discovered in sporadic DF underlies the importance of the Wnt/β-catenin pathway. 24325833 2014
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE β-Catenin-negative desmoids either carried a CTNNB1 mutation or were associated with Gardner syndrome. 23020601 2013
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 CTNNB1 mutations are indeed common in sporadic desmoid tumors. 23960186 2013
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE CTNNB1 mutations were observed in 29 of 44 (66%) desmoids, with 3 mutations identified: T41A (64%), S45F (29%), and S45P (7%). 22372443 2013
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 AlteredExpression disease BEFREE Tumor macrophages (CD163), microvessel density (CD31), and beta-catenin were investigated on 69 primary DTF cases with follow-up information.CTNNB1 mutations were also studied. 22744289 2012
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 Most spontaneous DTs are associated with mutations of the beta-catenin gene. 21859899 2012
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 AlteredExpression disease BEFREE The present study was designed to analyze the expression and mutation status of β-catenin in pediatric aggressive fibromatosis. 21323417 2012
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE CTNNB1 genotyping can be very useful in 'difficult to diagnose' lesions when the differential diagnosis includes DT. 21884214 2011
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Aggressive fibromatosis (desmoid tumour) is a locally invasive tumour caused by mutations resulting in β-catenin protein stabilisation. 21468052 2011
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE Abnormalities of β-catenin and VEGF overexpression play an important role in the neoplastic progression of sporadic desmoid tumours. 22034877 2011
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE Furthermore, 98 (15%) of the over-expressed genes were demonstrated to contain a TCF/LEF consensus binding site in their promoters, possibly heralding direct β-catenin downstream targets relevant to DT. 21826666 2011
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE Taken together, our findings indicate that aggressive fibromatosis is derived from MSCs, and that β-catenin supports tumorigenesis by maintaining mesenchymal progenitor cells in a less differentiated state. 20841474 2010
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Previous studies reported that CTNNB1 mutations were detected in 84% and that mutations of the APC gene were found in several cases of sporadic desmoid tumors lacking CTNNB1 mutations. 20232483 2010
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE Some recent work has focused on the role of beta-catenin in desmoid tumor biology. 19436199 2009
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease BEFREE Mutations in either the APC or beta-catenin genes are likely to be a major driving force in the formation of these desmoid tumors. 18722078 2009
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