Ontology highlight
ABSTRACT:
SUBMITTER: Robles-Espinoza CD
PROVIDER: S-EPMC4945874 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Nature communications 20160712
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 ...[more]