TY - JOUR
T1 - MC1R gene variants and non-melanoma skin cancer
T2 - A pooled-analysis from the M-SKIP project
AU - M-SKIP Study Group
AU - Tagliabue, E.
AU - Fargnoli, Maria Concetta
AU - Gandini, Sara
AU - Maisonneuve, Patrick
AU - Liu, F.
AU - Kayser, M.
AU - Nijsten, T.
AU - Han, J.
AU - Kumar, R.
AU - Gruis, N. A.
AU - Ferrucci, L.
AU - Branicki, W.
AU - Dwyer, Terence
AU - Blizzard, L.
AU - Helsing, P.
AU - Autier, P.
AU - García-Borrón, J. C.
AU - Kanetsky, Peter P.
AU - Landi, M. T.
AU - Little, Julian
AU - Newton-Bishop, Julia
AU - Sera, Francesco
AU - Raimondi, S.
AU - Caini, Saverio
AU - Hofman, Albert
AU - Uitterlinden, Andre G.
AU - Scherer, Dominique
AU - Nagore, Eduardo
AU - Hansson, Johan
AU - Hoiom, Veronica
AU - Ghiorzo, Paola
AU - Pastorino, Lorenza
AU - Bavinck, Jan Nico Bouwes
AU - Aguilera, Paula
AU - Badenas, Celia
AU - Carrera, Cristina
AU - Malvehy, Josep
AU - Mateu, Miriam Potrony
AU - Puig, Susana
AU - Puig-Butille, Joan Anton
AU - Tell, Gemma
AU - Cochrane, Jennifer
AU - Fernandez-De-Misa, Ricardo
AU - Debniak, Tadeusz
AU - Morling, Niels
AU - Johansen, Peter
AU - Mayne, Susan
AU - Bale, Allen
AU - Cartmel, Brenda
AU - Pfeiffer, Ruth
AU - Palmieri, Giuseppe
AU - Ribas, Gloria
AU - Stratigos, Alexander
AU - Kypreou, Katerina
AU - Bowcock, Anne
AU - Cornelius, Lynn
AU - Council, M. Laurin
AU - Motokawa, Tomonori
AU - Anno, Sumiko
AU - Andresen, Per Arne
AU - Wong, Terence H.
AU - Berwick, Marianne
AU - Orlow, Irene
AU - Mujumdar, Urvi
AU - Hummer, Amanda
AU - Busam, Klaus
AU - Roy, Pampa
AU - Canchola, Rebecca
AU - Clas, Brian
AU - Cotignola, Javiar
AU - Monroe, Yvette
AU - Armstrong, Bruce
AU - Kricker, Anne
AU - Litchfield, Melisa
AU - Dwye, Terence
AU - Tucker, Paul
AU - Stephens, Nicola
AU - Gallagher, Richard
AU - Switzer, Teresa
AU - Marrett, Loraine
AU - Theis, Beth
AU - From, Lynn
AU - Chowdhury, Noori
AU - Vanasse, Louise
AU - Purdue, Mark
AU - Northrup, David
AU - Zanetti, Roberto
AU - Rosso, Stefano
AU - Sacerdote, Carlotta
AU - Anton-Culver, Hoda
AU - Leighton, Nancy
AU - Gildea, Maureen
AU - Gruber, Stephen
AU - Bonner, Joe
AU - Jeter, Joanne
AU - Klotz, Judith
AU - Wilcox, Homer
AU - Weiss, Helen
AU - Millikan, Robert
AU - Thomas, Nancy
AU - Mattingly, Dianne
AU - Player, Jon
AU - Tse, Chiu Kit
AU - Rebbeck, Timothy
AU - Kanetsky, Peter P.
AU - Walker, Amy
AU - Panossian, Saarene
AU - Mohrenweiser, Harvey
AU - Setlow, Richard
PY - 2015/7/14
Y1 - 2015/7/14
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84937073564&partnerID=8YFLogxK
U2 - 10.1038/bjc.2015.231
DO - 10.1038/bjc.2015.231
M3 - Article
C2 - 26103569
AN - SCOPUS:84937073564
SN - 0007-0920
VL - 113
SP - 354
EP - 363
JO - British Journal of Cancer
JF - British Journal of Cancer
IS - 2
ER -
