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Silent Red Gene Greatly Increases Skin Cancer Risk

Abnormal growth of skin cells is a common form of cancer including basal-cell, squamous-cell and the more deadly melanoma. Genetics and environmental factors increase the risk of developing skin cancer. For example, excessive exposure to sunlight or tanning beds have been shown to be the primary cause of Melanoma. Those with a family history of melanoma, poor immune system, many moles, or low levels of skin pigment are at greater risk. Visual inspection and biopsy are used to detect melanoma with treatment involving removal by surgery with high survival rates if the cancer has not spread. Prevention includes avoiding UV light and the use of sunscreen.

Researchers have identified a genetic link between people with red hair, freckles, fair skin and sun sensitivity and an increased risk of melanoma. Variants in the Melanocortin 1 receptor (MC1R) that regulates skin pigmentation are linked with increasing melanoma risk. Sun exposure-associated substitutions were the most common mutations identified that could lead to melanoma. 42% of melanoma patients are carriers of at least one variant of the MC1R gene associated with red hair and freckles. These findings indicate why red-haired people are a high-risk group that need protection from the sun.

Surprisingly, this study highlighted that non-red headed people carrying a single variant also have a higher risk of tumor mutations. While having these gene variants may increase the risk of cancer, the lack of the gene variant does not mean protection from melanoma. This is one of the first examples of a common genetic profile that will have a large impact on the cancer genome to identify and advise individuals at a higher risk of developing melanoma. The study reinforces that people of all hair types and skin color can also carry common mutations that can lead to skin cancer without knowing it. Taking sensible sun protection is a must for everyone.

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