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

Katherine A. Ward, DeAnn Lazovich, Maria K Hordinsky

Research output: Contribution to journalReview articlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1055-1067
Number of pages13
JournalJournal of the American Academy of Dermatology
Issue number5
StatePublished - 2012

Bibliographical note

Publisher Copyright:
© 2012 by the American Academy of Dermatology, Inc.


  • Cutaneous malignant melanoma
  • DNA repair
  • Genetic susceptibility
  • Germline
  • Immune responses
  • Metabolism
  • Nevus counts
  • Pigmentation
  • Prognosis
  • Vitamin D receptor


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