Article
Germline MC1R status influences somatic mutation burden in melanoma.
Nature communications - 12 Jul 2016
Robles-Espinoza Carla Daniela, Roberts Nicola D, Chen Shuyang, Leacy Finbarr P, Alexandrov Ludmil B, Pornputtapong Natapol, Halaban Ruth, Krauthammer Michael, Cui Rutao, Timothy Bishop D, Adams David J
Abstract excerpt
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...
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