Red Hair Gene Linked to Sun-Induced Skin Cancer

Epidemiological studies have previously shown that people with red hair tend to have an increased risk for skin cancer. However, the genetic explanation for this phenomenon was unknown. Researchers at the Wellcome Trust Sanger Institute, National Autonomous University of Mexico, Boston University School of Medicine, Cambridge Institute of Public Health, Royal College of Surgeons in Ireland, Yale University School of Medicine, and Leeds Institute of Cancer and Pathology recently discovered that certain inherited mutations in the melanocortin 1 receptor (MC1R) gene, which give rise to red hair and light skin features, can actually increase the rate of UV-related and non-UV-related mutations in the skin that would be equivalent to 21 additional years of sun exposure in a person without the MC1R mutation. The MC1R gene is known to regulate skin pigmentation and plays a role in the repair of damaged DNA. The researchers made their discovery by analyzing publicly available genome sequencing databases from more than 400 patients with skin tumors. This study provided a genetic explanation for the increased susceptibility to skin cancer upon sun exposure among red-haired individuals and highlighted the importance of sun protection for people with fair skin that burns easily. It also characterized MC1R mutations with increased tumor promoting mutation burden, which can be used to identify at-risk individuals.