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The major genetic determinants of cutaneous melanoma risk in the general population are disruptive variants ( R  alleles) in the melanocortin 1 receptor ( MC1R ) gene. These alleles are also linked to red hair, freckling, and sun sensitivity, all of which are known melanoma phenotypic risk factors. Here we report that in melanomas and for somatic C>T mutations, a signature linked to sun exposure, the expected single-nucleotide variant count associated with the presence of an  R  allele is estimated to be 42% (95% CI, 15–76%) higher than that among persons without an  R  allele. This figure is comparable to the expected mutational burden associated with an additional 21 years of age. We also find significant and similar enrichment of non-C>T mutation classes supporting a role for additional mutagenic processes in melanoma development in individuals carrying  R  alleles.

Germline MC1R status influences somatic mutation burden in melanoma