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]
© 2015 Cancer Research UK. All rights reserved
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 Type:||Refereed Article|
|Keywords:||pooled-analysis, pigmentation genes, genetic epidemiology, basal cell carcinoma, squamous cell carcinoma|
|Research Division:||Medical and Health Sciences|
|Research Group:||Oncology and Carcinogenesis|
|Research Field:||Cancer Genetics|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Cancer and Related Disorders|
|Author:||Blizzard, L (Professor Leigh Blizzard)|
|Web of Science® Times Cited:||7|
|Deposited By:||Menzies Institute for Medical Research|
Repository Staff Only: item control page