@article{3078655,
    title = "MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: A pooled analysis from the M-SKIP project",
    author = "Caini, S. and Gandini, S. and Botta, F. and Tagliabue, E. and Raimondi, S. and Nagore, E. and Zanna, I. and Maisonneuve, P. and Newton-Bishop, J. and Polsky, D. and Lazovich, D. and Kumar, R. and Kanetsky, P.A. and Hoiom, V. and Ghiorzo, P. and Landi, M.T. and Ribas, G. and Menin, C. and Stratigos, A.J. and Palmieri, G. and Guida, G. and García-Borrón, J.C. and Nan, H. and Little, J. and Sera, F. and Puig, S. and Fargnoli, M.C.",
    journal = "Melanoma Research",
    year = "2020",
    pages = "500-510",
    publisher = "Lippincott Williams and Wilkins",
    issn = "0960-8931, 1473-5636",
    doi = "10.1097/CMR.0000000000000668",
    keywords = "MC1R protein, human;  melanocortin 1 receptor, case control study;  female;  genetic predisposition;  genetics;  human;  male;  melanoma;  metabolism;  middle aged;  pathology;  risk factor;  skin tumor, Case-Control Studies;  Female;  Genetic Predisposition to Disease;  Humans;  Male;  Melanoma;  Middle Aged;  Receptor, Melanocortin, Type 1;  Risk Factors;  Skin Neoplasms",
    abstract = "Little is known on whether melanocortin 1 receptor (MC1R) associated cutaneous melanoma (CM) risk varies depending on histological subtype and body site, and whether tumour thickness at diagnosis (the most important prognostic factor for CM patients) differs between MC1R variant carriers and wild-type individuals. We studied the association between MC1R variants and CM risk by histological subtype, body site, and Breslow thickness, using the database of the M-SKIP project. We pooled individual data from 15 case-control studies conducted during 2005-2015 in Europe and the USA. Study-specific, multi-adjusted odds ratios were pooled into summary odds ratios (SOR) and 95% confidence intervals (CI) using random-effects models. Six thousand eight hundred ninety-one CM cases and 5555 controls were included. CM risk was increased among MC1R variant carriers vs. wild-type individuals. The increase in risk was comparable across histological subtypes (SOR for any variant vs. wild-type ranged between 1.57 and 1.70, always statistical significant) except acral lentiginous melanoma (ALM), for which no association emerged; and slightly greater on chronically (1.74, 95% CI 1.47-2.07) than intermittently (1.55, 95% CI 1.34-1.78) sun-exposed skin. CM risk was greater for those carrying 'R' vs. 'r' variants; correlated with the number of variants; and was more evident among individuals not showing the red hair colour phenotype. Breslow thickness was not associated with MC1R status. MC1R variants were associated with an increased risk of CM of any histological subtype (except ALM) and occurring on both chronically and intermittently sun-exposed skin. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved."
}