Melanoma genetics: an update on risk-associated genes

Hematol Oncol Clin North Am. 2009 Jun;23(3):415-29, vii. doi: 10.1016/j.hoc.2009.03.011.


The past 15 years have seen rapid advances in both our understanding of hereditary melanoma genetics and the technologies that enable scientists to make discoveries. Despite great efforts by many groups worldwide, other high-risk melanoma loci besides CDKN2A still remain elusive. A panel of polymorphisms that appears to confer low-to-moderate risk for melanoma has been assembled through functional and genome-wide association studies. The goal of personalized melanoma risk prediction is within our reach, although true clinical use has yet to be established.

Publication types

  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Child
  • Genes, Neoplasm*
  • Genes, Retinoblastoma
  • Genes, p16
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Germ-Line Mutation
  • Humans
  • Melanoma / epidemiology
  • Melanoma / genetics*
  • Meta-Analysis as Topic
  • Neoplastic Syndromes, Hereditary / genetics
  • Receptor, Melanocortin, Type 1 / genetics
  • Risk
  • Skin Neoplasms / epidemiology
  • Skin Neoplasms / genetics
  • Xeroderma Pigmentosum / genetics


  • Receptor, Melanocortin, Type 1