[CDKN2A-mutation in a family with hereditary malignant melanoma]

Ugeskr Laeger. 2014 Sep 29;176(40):V10130587.
[Article in Danish]

Abstract

Malignant melanoma (MM) is a frequent form of cancer with increasing incidence. 6-10% of patients with MM report a family history of MM, and in most populations 2% of unselected cases of MM carry a CDKN2A mutation. tvWe present a family with 24 cases of MM in nine persons from several generations, caused by a previously undescribed germ-line intronic mutation in CDKN2A. Through genetic counselling and genetic testing high-risk persons in the family are located and offered regular screening for MM.

Publication types

  • Case Reports

MeSH terms

  • Cyclin-Dependent Kinase Inhibitor p16
  • Cyclin-Dependent Kinase Inhibitor p18 / genetics*
  • Family
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Male
  • Melanoma / genetics*
  • Middle Aged
  • Mutation
  • Skin Neoplasms / genetics*

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • Cyclin-Dependent Kinase Inhibitor p18