Red hair gene variation may increase skin cancer risk, says study

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red hair

Skin cancer is developed due to growth of abnormal cells in the skin. Skin cancer has several types, and melanomas are the most harmful.

Now researchers find that disruptive variants in genes linked to red hair and freckling are the major determinants of melanoma risk. The finding is published in Nature Communications.

Researchers from The Wellcome Trust Sanger Institute, Boston University School of Medicine, Cambridge Institute of Public Health, Royal College of Surgeons in Ireland, Leeds Institute of Cancer and Pathology, and Yale University School of Medicine conducted the study.

They found that even a single copy of red hair-related MC1R gene variant could increase the number of mutations in melanoma skin cancer. Many non-red haired people also carry the gene variants.

Red hair occurs 1-2% of the human population. It happens more frequently (2-6%) in people of northern or western European ancestry, and less frequently in other populations.

Usually, people with two copies of a recessive allele on chromosome 16 have red hair. An allele is one of many alternative forms of the same gene. The recessive allele on chromosome 16 can produce variants of the MC1R gene.

People with variants of the MC1R gene can also have freckles, pale skin and a strong tendency to burn in the sun.

In the study, researchers analyzed gene variants from two skin cancer databases: The Cancer Genome Atlas (TCGA) skin cutaneous melanoma (SKCM) collection, and a dataset from the Yale Melanoma Genome Project.

They found that people with the gene variants had about 42% higher sun-associated mutations in tumors than people without the gene variants.

Previous research has shown that red haired people are easy to have skin cancer, but this study demonstrates for the first time that the red hair gene variants is related to the most serious form of skin cancer.

Researchers suggest that red haired people should carefully cover their skin in strong sunlight. In addition, people with fair skin, freckles or moles are also have higher risk of skin cancer and should protect their skin properly.


Citation: Robles-Espinoza CD, et al. (2016). Germline MC1R status influences somatic mutation burden in melanoma. Nature Communications, 7: 12064. doi: 10.1038/NCOMMS12064.
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