作者: J.A. Avilés , P. Lázaro , L.P. Fernández , J. Benítez , M. Ibarrola-Villava
DOI: 10.1016/J.ADENGL.2011.04.006
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摘要: Abstract Background The melanocortin-1 receptor (MC1R) is an important risk factor for melanoma due to its role in the production of melanin response sun exposure. Objectives To analyze phenotypic and histologic characteristics cutaneous patients carrying mutations MC1R assess influence exposure on occurrence melanoma. Material methods A total 224 with a diagnosis seen Department Dermatology at Hospital General Universitario Gregorio Maranon Madrid, Spain between September 2004 December 2009 were included study. genomic sequence was analyzed by polymerase chain reaction. Results At least one following variants present 58% patients: V60L, V92M, I155T, R160W, D294H, R163Q. Carriers those had history sunburn ( P = .018) melanomas located areas intermittent = .019), majority superficial spreading These associations especially significant R160W D294H variants. also associated melanocytic nevi = .028). Conclusions results our study suggest that there may be relationship expression certain exposure, sunburn, skin type. They indicate higher frequency .