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Filaggrin Gene Mutations and Risk of Basal Cell Carcinoma

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Basal cell carcinoma (BCC) is prevalent in lightly-pigmented Europeans. While ultraviolet (UV) radiation is an important risk factor, genetic predispositions to BCC have also been identified (1) . Atopic dermatitis (AD), a condition with a heritability that reaches 71-84%, might increase the risk of BCC (2) . Loss-of-function mutations in the filaggrin gene (FLG) are observed in approximately 10% of Northern Europeans and are strongly associated with AD (3) . FLG mutations lead to reduced epidermal filaggrin protein and metabolite levels, including the chromophore trans-urocanic acid (UCA) (4) . Mice with knockdown of filaggrin, or lack of functional histidase, show decreased epidermal trans-UCA levels and increased UVB-induced skin damage (5) . FLG mutation carriers also have 10% increased serum vitamin D levels suggesting increased penetration of UVB (6) . We evaluated the prevalence of FLG mutations in a cohort of patients with BCC compared to a control group from the general population in Denmark to evaluate whether FLG mutations increase the risk of BCC. This article is protected by copyright. All rights reserved.
Original languageEnglish
JournalBritish Journal of Dermatology
Volume169
Issue number5
Pages (from-to)1162-1164
ISSN0007-0963
DOIs
Publication statusPublished - 8 Aug 2013

ID: 38984945