Germline MC1R status influences somatic mutation burden in melanoma
Carla Daniela Robles-Espinoza, Nicola D. Roberts, Shuyang Chen and 8 more
Nature Communications · 2016
doi:10.1038/ncomms12064 (opens in a new tab)
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Abstract
Deleterious germline variants in the MC1Rgene are associated with red hair and freckles, and with an increased risk of developing melanoma. Here, the authors investigate melanoma samples from patients with and without these variants and find that their presence is predictive of a higher overall mutation prevalence.
Abstract licence: CC BY-NC-ND
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