Sporadic melanoma in South-Eastern Italy: the impact of melanocortin 1 receptor (MC1R) polymorphism analysis in low-risk people and report of three novel variants

Archives of Dermatological Research
S GuidaG Guida

Abstract

Environmental and genetic risk factors are involved in the development of melanoma. The role of the melanocortin 1 receptor (MC1R) gene has been investigated and differences according to geographic areas have been described. To evaluate the role of some clinical and genetic risk factors in melanoma development, we performed a case-control study involving 101 melanoma patients and 103 controls coming from South-Eastern Italy (Puglia), after achieving informed consent. We confirmed the role of known clinical risk factors for melanoma. Furthermore, 42 MC1R polymorphisms were observed. Three of these variants (L26V, H232L, D294Y) were not previously reported in the literature. Their predicted impact on receptor function was evaluated using bioinformatic tools. We report an overall frequency of MC1R variants in our population higher than in Northern or Central Italy. The most common polymorphism found was V60L, that has been recently reported to spread among South Mediterranean population. This variant influenced phenotypic characteristics of our population while it did not impinge on melanoma risk. An increased risk of melanoma was associated with two or more MC1R variants, when at least one was RHC, compared to people carrying the...Continue Reading

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Jan 23, 2016·The British Journal of Dermatology·C MüllerI Okamoto
Sep 30, 2017·Journal of the European Academy of Dermatology and Venereology : JEADV·S GuidaG Guida
Jul 29, 2020·International Journal of Molecular Sciences·Simona SerratìGabriella Guida
Mar 23, 2021·Frontiers in Molecular Biosciences·Simona De SummaRosamaria Pinto
Aug 7, 2021·Genes·Michele ManganelliGabriella Guida
Aug 8, 2021·The Journal of Investigative Dermatology·Stefania GuidaColin Ronald Goding
Oct 20, 2021·Journal of the European Academy of Dermatology and Venereology : JEADV·C PellegriniUNKNOWN Italian Melanoma Intergroup (IMI)

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