Melanoma Genetic Risk (MC1R)
Prevalence: ~330,000 new melanoma cases/year worldwide; MC1R RHC variants in ~20% of Northern Europeans
MC1R variants, particularly rs1805007 (Arg151Cys), increase melanoma risk 2-4 fold independent of UV exposure by impairing DNA repair in melanocytes. Also affects anesthesia requirements.
Peptide Therapeutics
Alpha-MSH analog peptides (afamelanotide/Scenesse is FDA-approved for EPP), MC1R agonist peptides enhancing melanocyte DNA repair, and melanoma-targeting peptide vaccines.
Current Treatments
Afamelanotide (MC1R agonist peptide, approved for EPP), immune checkpoint inhibitors, BRAF/MEK inhibitors, surgical excision.
Key Genetic Variants
Associated Genes
Controls eumelanin vs pheomelanin synthesis ratio in melanocytes. Also affects pain perception, inflammation, and DNA repair capacity independent of pigmentation.
Explore peptide candidates for Melanoma Genetic Risk (MC1R)
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