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The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population

Abstract:  In this study, we assessed the role of melanocortin‐1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population. We enrolled 108 patients with skin malignant melanoma (MM) and 102 patients with BCC. The control group consisted of 93 non‐red haired patients, without history of skin cancers and 30 healthy individuals with red hair colour (RHC) phenotype. The complete MC1R exon was sequenced and the A8818G polymorphism of the ASIP gene was analysed using the SnaPshot protocol. Selected MC1R mutations were additionally examined using a convenient minisequencing assay. The study confirmed the important role of MC1R R variants in determining physiological variation in hair and skin colour. Our data show that individuals with R mutations had a 3.7‐fold increase in melanoma risk and a 3.3‐fold increase in BCC risk. Especially, variant R151C significantly increased the risk of both MM and BCC. The studied ASIP polymorphism was found not to be associated with MM or BCC. Stratified analysis showed that the association between MC1R mutations and the risk of MM and BCC was not significantly influenced by subjects’ pigmentation characteristics or the 8818G ASIP variant. Further research is necessary, especially involving analysis of interactions between variation in MC1R and other genes, to find out if analysis of MC1R polymorphisms could be of any importance for skin cancer prevention.