A mutational hotspot in CYLD causing cylindromas: a comparison of phenotypes arising in different genetic backgrounds

Acta Derm Venereol. 2013 Nov;93(6):743-5. doi: 10.2340/00015555-1590.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Adenoid Cystic / ethnology
  • Carcinoma, Adenoid Cystic / genetics*
  • Carcinoma, Adenoid Cystic / pathology
  • DNA Mutational Analysis
  • Deubiquitinating Enzyme CYLD
  • Genetic Predisposition to Disease
  • Haplotypes
  • Heredity
  • Humans
  • Mutation*
  • Neoplastic Syndromes, Hereditary / ethnology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / pathology
  • Pedigree
  • Phenotype
  • Skin Neoplasms / ethnology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD

Supplementary concepts

  • Familial cylindromatosis