Germline MC1R status influences somatic mutation burden in melanoma

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 and David J. Adams ()
Additional contact information
Carla Daniela Robles-Espinoza: Experimental Cancer Genetics, The Wellcome Trust Sanger Institute
Nicola D. Roberts: Experimental Cancer Genetics, The Wellcome Trust Sanger Institute
Shuyang Chen: Boston University School of Medicine
Finbarr P. Leacy: MRC Biostatistics Unit, Cambridge Institute of Public Health
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
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

Nature Communications, 2016, vol. 7, issue 1, 1-7

Abstract: 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.

Date: 2016
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/ncomms12064 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:7:y:2016:i:1:d:10.1038_ncomms12064

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms12064

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().