Mutation load in melanoma is affected by MC1R genotype

Whole-genome sequencing of matched germline and tumour pairs in a well-characterized cohort of melanoma
patients allowed investigation of associations between melanoma body site, age at melanoma onset and MC1R
variant status with overall mutation burden and specific base pair changes observed in the corresponding
melanoma. We observed statistically significant associations between mutation burden in melanoma and body
site, age at onset and MC1R genotype, for both ultraviolet radiation (UVR) signature