Melanoma viewed as a genetic disease

S. Puig, T. Castel, A. Ruiz, M. Lynch, J. Malvehy, Xavier P. Estivill, J. M. Mascaro

Research output: Contribution to journalReview article


Genetic research is a paradigm of oncologic progress. Even though not all the genes involved in melanoma susceptibility, development and progression are known, the genetic advances have led to an improvement of our knowledge of melanoma tumourigenesis. For the melanoma susceptibility gene, an excellent candidate exists on 9p21, the p16 gene. This gene is an inhibitor of the cyclin-kinase 4 and is mutated in most melanoma families linked to 9p. On the other hand, the implication of p16 in melanoma tumourigenesis of sporadic cases is not clear and it seems to be less important and more implicated in melanoma progression than in the initial stages of the disease. There exists strong evidence of the existence of other tumour suppressor genes on 9p21 involved in the early development of melanoma other than p16 and p15 (a p16 homologous gene in the same chromosomal region) genes. In advanced stages of melanoma, several genes, such as p53 and ras family proteins, could play a role in a different proportion of tumours. A better understanding of the molecular genetic basis of melanoma will lead to vast improvement in prevention, diagnosis and treatment of this increasingly more common cancer.

Original languageEnglish
Pages (from-to)223-230
Number of pages8
JournalSkin Cancer
Issue number4
Publication statusPublished - 1995
Externally publishedYes



  • 9p21.9p
  • cutaneous malignant melanoma
  • familial melanoma
  • FAMMM sd. gene
  • genetics
  • loss of heterozygosity
  • melanoma
  • oncogene
  • p15 gene
  • p16 gene
  • p53 gene
  • tumour suppressor gene

ASJC Scopus subject areas

  • Dermatology
  • Oncology

Cite this

Puig, S., Castel, T., Ruiz, A., Lynch, M., Malvehy, J., Estivill, X. P., & Mascaro, J. M. (1995). Melanoma viewed as a genetic disease. Skin Cancer, 10(4), 223-230.