Melanocortin 1 Receptor Variants, Pigmentation, and Skin Cancer Susceptibility

Photodermatol Photoimmunol Photomed. 2004 Dec;20(6):283-8. doi: 10.1111/j.1600-0781.2004.00132.x.


The melanocortin 1 receptor is a key regulator of variation in normal human pigmentation. Genetic variants of this receptor cause red hair and fair skin, and several case-control studies have demonstrated that these genetic variants increase the risk of skin cancer development in humans. The mechanism whereby the risks of skin cancer are increased is not entirely clear, and may be because of a combination of effects on pigmentation and non-pigmentary pathways.

Publication types

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

MeSH terms

  • Genetic Predisposition to Disease
  • Humans
  • Melanoma / genetics*
  • Receptor, Melanocortin, Type 1 / genetics*
  • Skin Neoplasms / genetics*
  • Skin Pigmentation / genetics*


  • Receptor, Melanocortin, Type 1