Germline MC1R status influences somatic mutation burden in melanoma

103Citations
Citations of this article
164Readers
Mendeley users who have this article in their library.

This article is free to access.

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.

Cite

CITATION STYLE

APA

Robles-Espinoza, C. D., Roberts, N. D., Chen, S., Leacy, F. P., Alexandrov, L. B., Pornputtapong, N., … Adams, D. J. (2016). Germline MC1R status influences somatic mutation burden in melanoma. Nature Communications, 7. https://doi.org/10.1038/ncomms12064

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free