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 CausalMutation disease CGI
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 SomaticCausalMutation disease ORPHANET
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 Biomarker disease HPO
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Aggressive fibromatosis is a mesenchymal neoplasm associated with mutations, resulting in beta-catenin-mediated transcriptional activation. 15674349 2005
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		0.700 GeneticVariation disease BEFREE Aggressive fibromatosis is a mesenchymal neoplasm associated with mutations resulting in beta-catenin mediated transcriptional activation. 17160433 2007
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 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 Desmoid type fibromatosis (DT) is a rare lesion of unclear pathogenesis that most often presents a mutation of the (β-catenin) gene. 26666421 2016
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 CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids. 18832571 2008
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 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 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 CTNNB1 mutations were observed in 223 of 254 (88%) of sporadic desmoid tumors. 22766794 2012
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 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 Biomarker disease BEFREE β-Catenin, the genetic key player of desmoid tumors shows nuclear accumulation due to mutations that prevent its degradation leading to activation of Wnt signaling and myofibroblastic cell proliferation. 29705714 2018
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 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 GeneticVariation disease BEFREE Accumulation of altered beta-catenin associated with a somatic heterozygous activating mutation in codon 41 was detected in the typical desmoid-type fibromatosis and at the ossifying focus. 16007344 2005
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 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 Biomarker disease BEFREE All 15 desmoid tumors were positive for β-catenin (surrogate marker of Wnt/β-catenin pathway dysregulation) which was negative in control normal skin and scar samples. 26894649 2017