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

E. Tagliabue, Maria Concetta Fargnoli, Sara Gandini, Patrick Maisonneuve, F. Liu, M. Kayser, T. Nijsten, J. Han, R. Kumar, N. A. Gruis, L. Ferrucci, W. Branicki, Terence Dwyer, L. Blizzard, P. Helsing, P. Autier, J. C. García-Borrón, P. A. Kanetsky, M. T. Landi, Julian LittleJulia Newton-Bishop, Francesco Sera, S. Raimondi, Saverio Caini, Albert Hofman, Andre G. Uitterlinden, Dominique Scherer, Eduardo Nagore, Johan Hansson, Veronica Hoiom, Paola Ghiorzo, Lorenza Pastorino, Jan Nico Bouwes Bavinck, Paula Aguilera, Celia Badenas, Cristina Carrera, Josep Malvehy, Miriam Potrony Mateu, Susana Puig, Joan Anton Puig-Butille, Gemma Tell, Jennifer Cochrane, Ricardo Fernandez-De-Misa, Tadeusz Debniak, Niels Morling, Peter Johansen, Susan Mayne, Allen Bale, Brenda Cartmel, Ruth Pfeiffer, Giuseppe Palmieri, Gloria Ribas, Alexander Stratigos, Katerina Kypreou, Anne Bowcock, Lynn Cornelius, M. Laurin Council, Tomonori Motokawa, Sumiko Anno, Per Arne Andresen, Terence H. Wong, Marianne Berwick, Irene Orlow, Urvi Mujumdar, Amanda Hummer, Klaus Busam, Pampa Roy, Rebecca Canchola, Brian Clas, Javiar Cotignola, Yvette Monroe, Bruce Armstrong, Anne Kricker, Melisa Litchfield, Terence Dwye, Paul Tucker, Nicola Stephens, Richard Gallagher, Teresa Switzer, Loraine Marrett, Beth Theis, Lynn From, Noori Chowdhury, Louise Vanasse, Mark Purdue, David Northrup, Roberto Zanetti, Stefano Rosso, Carlotta Sacerdote, Hoda Anton-Culver, Nancy Leighton, Maureen Gildea, Stephen Gruber, Joe Bonner, Joanne Jeter, Judith Klotz, Homer Wilcox, Helen Weiss, Robert Millikan, Nancy Thomas, Dianne Mattingly, Jon Player, Chiu Kit Tse, Timothy Rebbeck, Peter P. Kanetsky, Amy Walker, Saarene Panossian, Harvey Mohrenweiser, Richard Setlow

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)354-363
Number of pages10
JournalBritish journal of cancer
Issue number2
StatePublished - Jul 14 2015

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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