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Germline MC1R status influences somatic mutation burden in melanoma.
- Source :
-
Nature communications [Nat Commun] 2016 Jul 12; Vol. 7, pp. 12064. Date of Electronic Publication: 2016 Jul 12. - Publication Year :
- 2016
-
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.
- Subjects :
- Aged
Alleles
Cohort Studies
Female
Genetic Predisposition to Disease
Genetic Variation
Hair Color
Head and Neck Neoplasms genetics
Humans
Male
Melanoma pathology
Melanosis
Middle Aged
Mutation
Neoplasm Invasiveness
Polymorphism, Single Nucleotide
Skin Neoplasms pathology
Skin Pigmentation
Germ-Line Mutation genetics
Melanoma genetics
Mutation Accumulation
Receptor, Melanocortin, Type 1 genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2041-1723
- Volume :
- 7
- Database :
- MEDLINE
- Journal :
- Nature communications
- Publication Type :
- Academic Journal
- Accession number :
- 27403562
- Full Text :
- https://doi.org/10.1038/ncomms12064