Red-haired people 'at higher genetic risk of skin cancer mutations'

14 July 2016

Gene variants associated with red hair, pale skin and freckles have been shown to be linked to a higher risk of skin cancer mutations.

The Wellcome Trust Sanger Institute and University of Leeds study analysed publicly-available datasets of tumour DNA sequences collected from more than 400 people, finding an average of 42 per cent more sun-associated mutations in tumours from people carrying the gene variant known as MC1R.

Red-haired people carry two copies of a variant of the MC1R gene, which affects the type of melanin pigment they produce, thus giving them their distinct physical appearance, as well as a greater risk of burning in the sun.

The MC1R gene variation was shown to not only increase the number of spontaneous mutations caused by ultraviolet light, but it also raises the level of other mutations in the tumours.

Overall, it was calculated that the burden of mutations associated with these variants is comparable to an extra 21 years of sun exposure in people without them.

Dr David Adams, joint lead researcher at the Wellcome Trust Sanger Institute, said: "This is one of the first examples of a common genetic profile having a large impact on a cancer genome and could help better identify people at higher risk of developing skin cancer."

Posted by Edward Bartel


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