Familial melanoma; CDKN2A and beyond

J Investig Dermatol Symp Proc. 1999 Sep;4(1):50-4. doi: 10.1038/sj.jidsp.5640181.

Abstract

The most common hereditary melanoma susceptibility disorder is the familial atypical multiple mole-melanoma (FAMMM) syndrome. FAMMM is regarded as an ideal natural model to study the very complex pathologic mechanism of melanoma. In 1994, cloning of the melanoma susceptibility gene CDKN2A was thought to give answers to many questions on genotype-phenotype correlations in familial melanoma. Today, 4 y later, germline mutations cosegregate with melanoma in only 40%-50% of the families predisposed to this disease. The hunt for genes and modifying genes is on again. Through the years the very well-characterized Dutch FAMMM families have proven to be valuable study subjects in melanoma research. This paper describes over 10 y of melanoma research illustrated by research performed in the Dutch FAMMM families.

Publication types

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

MeSH terms

  • Chromosomes, Human, Pair 9
  • Genes, p16*
  • Humans
  • Melanoma / genetics*
  • Neoplastic Syndromes, Hereditary / genetics*
  • Skin Neoplasms / genetics*