Melanocortin-1 receptor: loss of function mutations and skin cancer.
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.
Mumm
Christina D
CD
University of California Davis, Department of Dermatology, USA.
Draznin
Michelle
M
D000328:Adult; D002280:Basal Cell Carcinoma / Q000235:genetics / Q000473:pathology; D020022:Genetic Predisposition to Disease; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D008543:Melanins / Q000235:genetics; D008545:Melanoma / Q000235:genetics; D009154:Mutation; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology; D013472:Sunlight / Q000009:adverse effects
D008543:Melanins; D044102:Receptor, Melanocortin, Type 1