title: Understanding Inherited Cylindromas: Clinical Implications of Gene Discovery.
abstract: Cylindromas are cutaneous tumors first described in the medical literature over 150 years ago. They are now known to occur on an inherited basis as a result of mutations in the tumor-suppressor gene CYLD. The discovery of this gene has provided novel insights into this rare skin tumor syndrome. As well as enabling genetic counseling of affected patients, the knowledge of CYLD function has led to steps toward development of novel therapeutics, with CYLD-regulated signaling pathways as the target for this approach.
authors.affiliation: Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Dubois
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
authors.forename: Kirsty
authors.initials: K
authors.lastname: Hodgson
authors.affiliation: Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; Department of Dermatology, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK. Electronic address: neil.rajan@ncl.ac.uk.
authors.forename: Neil
authors.initials: N
authors.lastname: Rajan
mesh_terms: D000074749:Deubiquitinating Enzyme CYLD; D005838:Genotype; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD
keywords: Brooke-Spiegler syndrome; CYLD; CYLD cutaneous syndrome; Cylindroma; Spiradenoma