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: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 Biomarker disease BEFREE Is immunohistochemical staining for β-catenin the definitive pathological diagnostic tool for desmoid-type fibromatosis? A multi-institutional study. 30292627 2019
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 Biomarker disease BEFREE The established role of the Wnt/β-catenin pathway in DTF forms an attractive therapeutic target, however, drugs targeting this pathway are still in an experimental stage and not yet available in the clinic. 31165043 2019
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 Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size. 31804402 2019
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 Biomarker disease BEFREE Nuclear TFE3 and β-catenin staining was performed on a wide range of tumor types such as DTF (n = 46), nodular fasciitis (n = 14), neurofibroma (n = 5), dermatofibrosarcoma protuberans (n = 5), gastrointestinal stromal tumor (n = 10), sclerosing epithelioid fibrosarcoma (n = 2), synovial sarcoma (n = 5), leiomyoma (n = 3) and cutaneous scar tissue (n = 4) using an immunohistochemical approach. 31043173 2019
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 Biomarker disease BEFREE We performed LEF1 and β-catenin immunohistochemistry in DTF (n=26), superficial fibromatosis (n=19), sclerosing mesenteritis (n=12), gastrointestinal stromal tumor (n=17), and cutaneous scar (n=14) using tissue microarray and whole sections. 28027119 2018
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 Biomarker disease BEFREE For comparison, nuclear localization of β-catenin was more diffuse in desmoid fibromatosis, a tumor also associated with CTNNB1 mutation. 29795437 2018
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 Biomarker disease BEFREE In conclusion, a minority of DT is WT for either CTNNB1, APC or any other gene involved in the WNT pathway. 29901254 2018
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 AlteredExpression disease BEFREE We explored the influence of both mutations and WT on structure stability and affinity of β-catenin for α-catenin and the pattern of gene expression that may influence DF behavior. 28627792 2017
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 Biomarker disease BEFREE Nuclear expression of non-phospho β-catenin might more appropriately reflect the biological behavior of DF, and immunohistochemical staining with non-phospho β-catenin could serve as a more useful diagnostic and prognostic tool of COX-2 inhibitor therapy for patients with DF. 28851389 2017
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 AlteredExpression disease BEFREE Immunohistochemically, fibroblasts in the DTF components showed nuclear and cytoplasmic expression for beta-catenin in 12 cases. 28794344 2017
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 GeneticVariation disease BEFREE Papillary thyroid carcinoma with nodular fasciitis-like stroma and β-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis. 27713418 2017
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 GeneticVariation disease BEFREE Our case report provides further evidence for the efficacy of celecoxib in AF with CTNNB1 gene mutations. 28881160 2017
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
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 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 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 Biomarker disease BEFREE However, the spectrum of β-catenin-driven (β-catenin-altered) neoplasia of mesenchymal origin has been steadily widening to include, in addition to desmoid tumors, a variety of benign and intermediate-biology neoplasms of soft tissue (intranodal palisaded myofibroblastoma), head and neck (juvenile nasopharyngeal angiofibroma and sinonasal hemangiopericytoma/glomangiopericytoma), and ovarian (microcystic stromal tumor) origin. 26645457 2016
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive
0.700 GeneticVariation disease BEFREE For the current study, the CTNNB1 mutation status was analyzed in DF samples from the prospective German Interdisciplinary Sarcoma Group (GISG) phase 2 study evaluating imatinib to induce progression arrest in DF Response Evaluation Criteria In Solid Tumors (RECIST) progressive patients. 26861905 2016
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 In addition to the CTNNB1 mutation (64%), pediatric AF showed AKT1 (31%), BRAF (19%), and TP53 (9%) mutations, whereas only the CTNNB1 mutation was found in adult AF. 27062580 2016
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