Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility.
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.
Healy
Eugene
E
Dermatology, University of Southampton, UK. E.Healy@soton.ac.uk
D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*
D044102:Receptor, Melanocortin, Type 1