Melanocortin-1 receptor: loss of function mutations and skin cancer

Dermatol Online J. 2006 Sep 8;12(5):13.

Abstract

We present a red-haired patient who came to our clinic seeking information regarding his predisposition to skin cancer. We discuss the receptor involved in hair color and the allelic variants that lead to red hair. These variants are often characterized by loss of function mutations, which lead to a predisposition to non-melanoma skin cancers, with relative risks reaching as high as a 6.7 in one study. Most concerning, however, is that some of these loss of function mutations may act synergistically with genetic mutations that cause familial melanomas. Thus, red haired patients with familial melanoma syndromes have a greater risk of melanoma than those patients with familial melanoma syndromes alone.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Carcinoma, Basal Cell / genetics
  • Carcinoma, Basal Cell / pathology
  • Genetic Predisposition to Disease
  • Hair Color / genetics*
  • Humans
  • Male
  • Melanins / genetics
  • Melanoma / genetics
  • Mutation
  • Receptor, Melanocortin, Type 1 / genetics*
  • Risk Factors
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Sunlight / adverse effects

Substances

  • Melanins
  • Receptor, Melanocortin, Type 1