Familial skin cancer syndromes: Increased melanoma risk

J Am Acad Dermatol. 2016 Mar;74(3):423-34; quiz 435-6. doi: 10.1016/j.jaad.2015.09.070.

Abstract

Phenotypic traits, such as red hair and freckling, increase melanoma risk by 2- to 3-fold. In addition, approximately 10% of melanomas are caused by inherited germline mutations that increase melanoma risk from 4- to >1000-fold. This review highlights the key genes responsible for inherited melanoma, with an emphasis on when a patient should undergo genetic testing. Many genetic syndromes associated with increased melanoma risk are also associated with an increased risk of other cancers. Identification of these high-risk patients is essential for preventive behavior reinforcement, genetic counseling, and ensuring other required cancer screenings.

Keywords: genetic syndromes; genetics; inherited cancer risk; melanoma; oncogenes; skin cancer; tumor suppressor.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Melanoma / diagnosis
  • Melanoma / epidemiology*
  • Melanoma / genetics*
  • Melanoma / therapy
  • Neoplastic Syndromes, Hereditary* / diagnosis
  • Neoplastic Syndromes, Hereditary* / epidemiology
  • Neoplastic Syndromes, Hereditary* / therapy
  • Risk
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / epidemiology*
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / therapy