The genetic basis of uveal melanoma

J Fr Ophtalmol. 2015 Jun;38(6):516-21. doi: 10.1016/j.jfo.2015.04.003. Epub 2015 May 11.

Abstract

Uveal melanoma (UM) is the most common intraocular malignancy in adults with an incidence of about 1/100,000 new cases per year in the Western world. Risk factors are having a light skin, blond hair and blue eyes. As some UM patients have a young age at diagnosis or an affected family history for UM or other malignancies, there may be an underlying genetic basis. This review discusses known or suspected risk factors for UM, the cancer risk in UM patients and their family members, and the genes that have been reported to predispose to UM (germline mutations) and tumor development (somatic mutations).

Keywords: BAP1; Cancer risk; Genetic risk factors; Le risque de cancer; Les facteurs de risque génétique; Mélanome uvéal; Uveal melanoma.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics
  • Cell Transformation, Neoplastic / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Melanoma / diagnosis*
  • Melanoma / epidemiology
  • Melanoma / genetics*
  • Melanoma / mortality
  • Middle Aged
  • Prognosis
  • Risk Factors
  • Survival Analysis
  • Uveal Neoplasms / diagnosis*
  • Uveal Neoplasms / epidemiology
  • Uveal Neoplasms / genetics*
  • Uveal Neoplasms / mortality

Substances

  • BRCA1 Protein
  • BRCA1 protein, human

Supplementary concepts

  • Uveal melanoma