Germline melanoma susceptibility and prognostic genes: a review of the literature

J Am Acad Dermatol. 2012 Nov;67(5):1055-67. doi: 10.1016/j.jaad.2012.02.042. Epub 2012 May 13.


In recent years, there have been increasing efforts to identify germline genetic variants that may alter melanoma susceptibility and prognosis. The findings of these studies have indicated the presence of rare, high-penetrance alleles with large effects, such as CDKN2A and CDK4, more common, moderately penetrant genes like MC1R, and very common, low-penetrance polymorphisms with small effects that are related to pigmentation, nevus count, immune responses, DNA repair, metabolism, and the vitamin D receptor. The study of these low-penetrance single nucleotide polymorphisms is relatively new; thus many of them are termed 'candidate melanoma susceptibility or prognostic genes.' This review summarizes the research on germline polymorphisms that have been implicated in melanoma susceptibility and prognosis in order to provide a framework for additional studies to meet the ultimate goal of predicting a patient's risk of, and prognosis in, cutaneous malignant melanoma.

Publication types

  • Review

MeSH terms

  • Genes, p16 / physiology
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Melanoma / genetics*
  • Penetrance
  • Polymorphism, Single Nucleotide / genetics*
  • Prognosis
  • Receptors, Calcitriol / genetics
  • Skin Neoplasms / genetics*


  • Receptors, Calcitriol