A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

Hum Genet. 1999 Jul-Aug;105(1-2):171-3. doi: 10.1007/s004399900077.

Abstract

Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12-13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Carcinoma, Adenoid Cystic / genetics*
  • Child
  • Chromosomes, Human, Pair 16*
  • Female
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Genotype
  • Humans
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Pedigree
  • Skin Neoplasms / genetics*

Substances

  • Genetic Markers