MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers.
Courtney K WallingfordAnastassia DemeshkoAsha Krishnankutty KrishnakripaDarren J SmitDavid L DuffyBrigid Betz-StableinAnnette PflugfelderKasturee JagirdarElizabeth HollandGraham J MannClare A PrimieroTatiane YanesJosep MalvehyCèlia BadenasCristina CarreraPaula AguileraCatherine M OlsenSarah V WardNikolas K HaassRichard A SturmSusanna PuigDavid C WhitemanMatthew H LawAmelia K SmitMiriam PotronyHans Peter SoyerAideen M McInerney-LeoPublished in: The British journal of dermatology (2023)
RHC alleles/genotypes modify melanoma risk differently in MITF E318K- and E318K+ individuals. Specifically, although all RHC alleles increase risk relative to wt in E318K- individuals, only MC1R R increases melanoma risk in E318K+ individuals. Importantly, in the E318K+ cohort the MC1R r allele risk is comparable to wt. These findings could inform counselling and management for MITF E318K+ individuals.
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