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Title: MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project
Author: Tagliabue, Elda
Fargnoli, Maria Concetta
Gandini, S.
Maisonneuve, P.
Liu, F.
Kayser, M.
Nijsten, T.
Han, Jiali
Kumar, Rajiv
Gruis, Nelleke A.
Ferrucci, L.
Branicki, W.
Dwyer, T.
Blizzard, L.
Helsing, P.
Autier, P.
García-Borrón, J.C.
Kanetsky, Peter A.
Landi, Maria Teresa
Little, J.
Newton-Bishop, Julia A.
Sera, F.
Raimondi, Susana
Puig i Sardà, Susana
M-SKIP Study Group
Keywords: Genètica mèdica
Càncer de pell
Avaluació del risc per la salut
Genètica de poblacions humanes
Medical genetics
Skin cancer
Health risk assessment
Human population genetics
Issue Date: 14-Jul-2015
Publisher: Cancer Research UK
Abstract: BACKGROUND: The melanocortin-1-receptor (MC1R) gene regulates human pigmentation and is highly polymorphic in populations of European origins. The aims of this study were to evaluate the association between MC1R variants and the risk of non-melanoma skin cancer (NMSC), and to investigate whether risk estimates differed by phenotypic characteristics. METHODS: Data on 3527 NMSC cases and 9391 controls were gathered through the M-SKIP Project, an international pooled-analysis on MC1R, skin cancer and phenotypic characteristics. We calculated summary odds ratios (SOR) with random-effect models, and performed stratified analyses. RESULTS: Subjects carrying at least one MC1R variant had an increased risk of NMSC overall, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC): SOR (95%CI) were 1.48 (1.24-1.76), 1.39 (1.15-1.69) and 1.61 (1.35-1.91), respectively. All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19-1.70) for V60L to 2.66 (1.06-6.65) for D84E variant. In stratified analysis, there was no consistent pattern of association between MC1R and NMSC by skin type, but we consistently observed higher SORs for subjects without red hair. CONCLUSIONS: Our pooled-analysis highlighted a role of MC1R variants in NMSC development and suggested an effect modification by red hair colour phenotype.
Note: Reproducció del document publicat a:
It is part of: British Journal of Cancer, 2015, vol. 113, num. 2, p. 354-363
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ISSN: 0007-0920
Appears in Collections:Articles publicats en revistes (Medicina)

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