Genetics of melanoma susceptibility

Paola Chiorzo, Giovanna Bianchi Scarrà

Research output: Contribution to journalArticlepeer-review


Both genetic and environmental factors confer a significantly increased risk for cutaneous melanoma. This review discusses hereditary predisposition to the disease, focusing on the high-penetrance candidate genes INK4A/ARF and CDK4, and on pathogenetic mechanisms of mutations in those genes. As known mutations account for approximately 25 to 40% of melanoma families reported to date, it is clear that other melanoma genes and other mechanisms underlying predisposition remain to be discovered. Low penetrance susceptibility genes such as melanocortin 1 receptor and their modifying effect, also in concert with UV radiation, are likely to be implicated. Recent reports on a new candidate locus on chromosome 1p22 and somatic mutations in genes of the RAS-RAF-ERK signalling pathway raise interesting questions for further investigation.

Original languageEnglish
Pages (from-to)114-126
Number of pages13
JournalFORUM - Trends in Experimental and Clinical Medicine
Issue number2
Publication statusPublished - 2003


  • ARF
  • BRAF
  • CDK4
  • CDKN2A
  • MC1R
  • NRAS

ASJC Scopus subject areas

  • Medicine(all)


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