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Germline MC1R status influences somatic mutation burden in melanoma

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  • Carla Daniela Robles-Espinoza

    (Experimental Cancer Genetics, The Wellcome Trust Sanger Institute
    Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México)

  • Nicola D. Roberts

    (Experimental Cancer Genetics, The Wellcome Trust Sanger Institute
    The Cancer Genome Project, The Wellcome Trust Sanger Institute)

  • Shuyang Chen

    (Boston University School of Medicine)

  • Finbarr P. Leacy

    (MRC Biostatistics Unit, Cambridge Institute of Public Health
    Royal College of Surgeons in Ireland)

  • Ludmil B. Alexandrov

    (The Cancer Genome Project, The Wellcome Trust Sanger Institute)

  • Natapol Pornputtapong

    (Yale University School of Medicine)

  • Ruth Halaban

    (Yale University School of Medicine)

  • Michael Krauthammer

    (Yale University School of Medicine
    Program in Computational Biology and Bioinformatics, Yale University School of Medicine)

  • Rutao Cui

    (Boston University School of Medicine)

  • D. Timothy Bishop

    (Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds)

  • David J. Adams

    (Experimental Cancer Genetics, The Wellcome Trust Sanger Institute)

Abstract

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.

Suggested Citation

  • Carla Daniela Robles-Espinoza & Nicola D. Roberts & Shuyang Chen & Finbarr P. Leacy & Ludmil B. Alexandrov & Natapol Pornputtapong & Ruth Halaban & Michael Krauthammer & Rutao Cui & D. Timothy Bishop , 2016. "Germline MC1R status influences somatic mutation burden in melanoma," Nature Communications, Nature, vol. 7(1), pages 1-7, November.
    • Handle: RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12064
    DOI: 10.1038/ncomms12064
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