CDKN2A as a uveal and cutaneous melanoma susceptibility gene

Genes Chromosomes Cancer. 2003 Nov;38(3):265-8. doi: 10.1002/gcc.10286.


A few families have been described whose members are affected by either cutaneous melanoma (CM) or uveal melanoma (UM), suggesting that a common susceptibility could exist. Although CDKN2A is the main CM predisposing gene, thus far no germline CDKN2A mutations have been described in families with both CM and UM. We report a Gly67Ser missense CDKN2A germline mutation in a melanoma-prone family, where one carrier was affected by UM and the other by a CM. Immunohistochemistry performed on the UM tissue block revealed loss of CDKN2A protein staining in tumor cells. These observations demonstrate that CDKN2A is also a UM susceptibility gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Female
  • Genes, p16*
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation
  • Humans
  • Male
  • Melanoma / genetics*
  • Mice
  • Middle Aged
  • Mutation, Missense
  • Pedigree
  • Skin Neoplasms / genetics*
  • Uveal Neoplasms / genetics*


  • Cyclin-Dependent Kinase Inhibitor p16