CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene. 29974194 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE These include deletion of the tumor suppressor CYLD, promotor methylation of the Wnt antagonists WIF1, DKK1, DKK3, and sFRP1, sFRP2, sFRP4, sFRP5, as well as overexpression of the co-transcriptional activator BCL9 and the R-spondin receptor LGR4. 30770859 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. 19917957 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Patients with germline mutations in a tumour suppressor gene called CYLD develop multiple, disfiguring, hair follicle tumours on the head and neck. 28270164 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Pathogenic truncations of the CYLD C terminus, associated with the hypertrophic skin tumor cylindromatosis, disrupt the USP domain, accounting for loss of CYLD catalytic activity. 18313383 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE In affected families, mutations have been demonstrated in the CYLD gene located on chromosome 16q12-13 and reveal the characteristic attributes of a tumor suppressor. 12190880 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE RNA interference-mediated silencing of TRKB and TRKC, as well as treatment with the small-molecule TRK inhibitor lestaurtinib, reduced colony formation and proliferation in 3D primary cell cultures established from CYLD mutant tumours. 21552290 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c.1112C>A/S371X) in the CYLD gene and both showed loss of heterozygosity on chromosome 16q. 22588548 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE We conclude that somatic mutation of the CYLD1 gene outside the skin can have a role in the oncogenesis of tumors with cylindromatous features. 11756779 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE A predisposition to multiple cylindromas is seen in patients with Brooke-Spiegler syndrome, who carry germline mutations in the tumour suppressor gene CYLD. 26969893 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Recurrent mutations were identified in tumor suppressor genes TP53 (n = 4), SMAD4 (n = 2), and CYLD (n = 2); and chromatin remodeling genes KDM6A (n = 3), SETD2 (n = 2), MLL3 (n = 2), and MLL2 (n = 2). 25299233 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Germline mutations in the tumour suppressor gene CYLD are recognized to be associated with the development of multiple cutaneous cylindromas. 29569226 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. 31624251 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE DNA analysis of tumour tissue showed loss of heterozygosity for the cylindromatosis CYLD1 locus. 9783709 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE They are now known to occur on an inherited basis as a result of mutations in the tumor-suppressor gene CYLD. 27890238 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE These neoplasms also share considerable phenotypic resemblance and co-exist with certain dermal adnexal tumors harboring the CYLD gene mutations inferring common genetic association. 29463883 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Using these data, we propose a model where epigenetic programming may influence tumour patterning in patients with CYLD mutations. 21598248 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Of these potential substrates, serine 418 of the tumor suppressor CYLD was identified as a likely site of IKKepsilon phosphorylation. 19481526 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE In this manuscript we report that the tumor suppressor CYLD, similarly to other renowned tumor suppressor genes, protects from premature aging and cancer. 30631004 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE This observation suggests that the cyld1 gene may be the only tumour suppressor gene implicated in the development of cylindromas. 8649842 1996
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE CYLD lysine 63 deubiquitinase (CYLD) was originally identified as a tumor suppressor that is mutated in familial cylindromatosis. 29344161 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE To elucidate how CYLD contributes to tumor formation, we aimed to identify molecular partners in keratinocytes. 31260673 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The loss of CYLD gene of tumor suppressor gene, 16q12-q13, was only on locus of common involvement in 3 cell lines. 18799932 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE For this, we explored the tumor microenvironment for targeted drug delivery and synthesized (temperature and pH responsive) double triggered polymeric nanoparticles by the free radical mechanism and characterized them by DLS and TEM. 31549130 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE In addition, we delineate how CYLD interferes with activation of the proto-oncogene Bcl(3) and with cyclin D1 expression to limit tumorigenesis, and chart how tumor growth-promoting agents or UV light and inflammatory mediators can activate CYLD. 18008375 2007