AI Article Synopsis

  • A red-haired patient sought information about his risk for skin cancer due to genetic factors.
  • The discussion centers on the receptor responsible for hair color and how specific allelic variants contribute to red hair and increased skin cancer susceptibility.
  • Notably, loss of function mutations linked to red hair can combine with mutations causing familial melanomas, significantly raising the risk of melanoma in red-haired patients with these syndromes.

Article 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.

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