Genetics of familial and sporadic melanoma

Clin Exp Dermatol. 2000 Sep;25(6):464-70. doi: 10.1046/j.1365-2230.2000.00689.x.


Like many other cancers, melanoma has a significant genetic basis. However, its genetic pathways may involve multiple genes with probable interactions with sun exposure. Germline mutations in p16 or CDKN2A are found in a significant percentage of relatively rare melanoma families but p16 mutations are uncommon in sporadic tumours. p16 may still be involved by other mechanisms of inactivation; however, it is clear that other melanoma genes remain to be discovered. Family, case-control, twin and sib-pair analyses as well as DNA chip technology may shed some light on genes involved in melanocytic differentiation and skin pigmentation. Recent public health campaigns have not been very successful in changing behaviour regarding tanning, and the relationship between sun exposure and melanoma is very complex. With the understanding of genetic alterations leading to this tumour, follow-up strategies and behavioural interventions may be more specifically designed to target high risk groups.

Publication types

  • Review

MeSH terms

  • Humans
  • Long-Term Care / methods
  • Melanoma / genetics*
  • Neoplastic Syndromes, Hereditary / genetics*
  • Nevus, Pigmented / genetics
  • Phenotype
  • Precancerous Conditions / genetics
  • Skin Neoplasms / genetics*