Mutation load in melanoma is affected by MC1R genotype

Peter A. Johansson, Antonia L. Pritchard, Ann-Marie Patch, James S. Wilmott, John V. Pearson, Nicola Waddell, Richard A. Scolyer, Graham J. Mann, Nicholas K. Hayward

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)255-258
Number of pages4
JournalPigment Cell and Melanoma Research
Issue number2
Publication statusPublished - 7 Mar 2017


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