MC1R gene variants drive up melanoma mutations
medwireNews: A study evaluating the association between melanocortin 1 receptor (MC1R) gene variants and somatic mutations in melanomas suggests that even individuals with a single copy of the MC1R variant may be susceptible to the mutagenic effects of sun damage.
Analysis of 405 cutaneous melanoma specimens from The Cancer Genome Atlas and the Yale Melanoma Genome Project showed that somatic single nucleotide polymorphisms were significantly more common in samples from patients who harboured one or two copies of the variant MC1R alleles known to be strongly associated with the red hair and light skin phenotype (ie, R alleles).
As reported in Nature Communications, the incidence of C>T mutations, which arise in response to solar UV damage, was a significant 42% higher in individuals with versus without an R allele, and was equivalent to the mutational burden expected in individuals who are 21 years older.
The presence of R alleles was also associated with higher numbers of other mutation types, suggesting that perhaps other mutational processes also underlie cancer development in R-allele carriers, say David Adams (The Wellcome Trust Sanger Institute, Hinxton, UK) and colleagues.
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