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MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project

Tagliabue, E ; Fargnoli, M C ; Gandini, S ; Maisonneuve, P ; Liu, F ; Kayser, M ; Nijsten, T ; Han, J ; Kumar, R ; Gruis, N A ; Ferrucci, L ; Branicki, W ; Dwyer, T ; Blizzard, L ; Helsing, P ; Autier, P ; García-Borrón, J C ; Kanetsky, P A ; Landi, M T ; Little, J ; Newton-Bishop, J ; Sera, F ; Raimondi, S

Breast cancer research and treatment, 2015-07, Vol.113 (2), p.354-363 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project
Autor: Tagliabue, E ; Fargnoli, M C ; Gandini, S ; Maisonneuve, P ; Liu, F ; Kayser, M ; Nijsten, T ; Han, J ; Kumar, R ; Gruis, N A ; Ferrucci, L ; Branicki, W ; Dwyer, T ; Blizzard, L ; Helsing, P ; Autier, P ; García-Borrón, J C ; Kanetsky, P A ; Landi, M T ; Little, J ; Newton-Bishop, J ; Sera, F ; Raimondi, S
Assuntos: Avaluació del risc per la salut ; Carcinoma, Basal Cell - genetics ; Carcinoma, Squamous Cell - genetics ; Càncer de pell ; Genetic Predisposition to Disease ; Genetics & Genomics ; Genètica de poblacions humanes ; Genètica mèdica ; Hair Color ; Health risk assessment ; Human population genetics ; Humans ; Life Sciences ; Medical genetics ; Odds Ratio ; Phenotype ; Receptor, Melanocortin, Type 1 - genetics ; Risk ; Santé publique et épidémiologie ; Skin cancer ; Skin Neoplasms - etiology ; Skin Neoplasms - genetics
É parte de: Breast cancer research and treatment, 2015-07, Vol.113 (2), p.354-363
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
PMCID: PMC4506395
Descrição: 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. 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. 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. Our pooled-analysis highlighted a role of MC1R variants in NMSC development and suggested an effect modification by red hair colour phenotype.
Editor: England: Nature Publishing Group
Idioma: Inglês

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MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project

England: Nature Publishing Group

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