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


Tagliabue, E and Fargnoli, MC and Gandini, S and Maisonneuve, P and Liu, F and Kayser, M and Nijsten, T and Han, J and Kumar, R and Gruis, NA and Ferrucci, L and Branicki, W and Dwyer, T and Blizzard, L and Helsing, P and Autier, P and Garcia-Borron, JC and Kanetsky, PA and Landi, MT and Little, J and Newton-Bishop, J and Sera, F and Raimondi, S, M-SKIP Study Group, MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project, British Journal of Cancer, 113, (2) pp. 354-363. ISSN 0007-0920 (2015) [Refereed Article]

Copyright Statement

2015 Cancer Research UK. All rights reserved

DOI: doi:10.1038/bjc.2015.231


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.

Item Details

Item Type:Refereed Article
Keywords:pooled-analysis, pigmentation genes, genetic epidemiology, basal cell carcinoma, squamous cell carcinoma
Research Division:Biomedical and Clinical Sciences
Research Group:Oncology and carcinogenesis
Research Field:Cancer genetics
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Blizzard, L (Professor Leigh Blizzard)
ID Code:101869
Year Published:2015
Web of Science® Times Cited:26
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-07-14
Last Modified:2017-11-06

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