title: A case-control study of MC1R variants in Greek patients with basal cell carcinoma: increased risk independently of pigmentary characteristics.
abstract: Melanocortin 1 receptor (MC1R) gene variants are a major contributor to pigmentation characteristics and the modulation of sporadic basal cell carcinoma (BCC) risk. This is a hospital-based, case-control study to investigate the association of MC1R variants and pigmentary characteristics with the risk of BCC development in a Southern European population in Greece. In total, 141 patients with BCC and 166 controls were studied. Increased BCC risk was found for the presence of 2 or more MC1R variants (OR:3.07, 95% CI:1.13-8.34), or 2 or more variants of which at least 1 was major function (OR:7.15, 95% CI:1.37-5.52), after adjustment for the 'red hair colour' (RHC) phenotype. Increased BCC risk persisted in the presence of 2 or more MC1R variants (OR:4.15, 95% CI:1.35-12.72), after adjustment for potential confounding factors including skin color (P:0.237) and atypical nevi (OR:9.57, 95% CI:2.19-41.81, P:0.003). MC1R genotype is a risk factor for the development of BCC in Greek patients independently of pigmentary characteristics, and the combination of MC1R variants may modulate this risk.
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Clio
authors: C
authors: Dessinioti
authors: Department of Hygiene, Epidemiology and Medical Statistics, Athens University Medical School, Athens, Greece.
authors: Vana
authors: V
authors: Sypsa
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Katerina
authors: K
authors: Kypreou
authors: Department of Medical Genetics, University of Athens Medical School, Agia Sophia Children's Hospital, Athens, Greece.
authors: Gerasimos
authors: G
authors: Dimisianos
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Elisavet
authors: E
authors: Kodela
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Vasiliki
authors: V
authors: Nikolaou
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Christina
authors: C
authors: Antoniou
authors: Dermato-Oncology Unit, 1st Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens, Greece.
authors: Alexander J
authors: AJ
authors: Stratigos
mesh_terms: D000328:Adult; D000368:Aged; D002280:Basal Cell Carcinoma / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006115:Greece; D006200:Hair Color / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012307:Risk Factors; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics*
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: MC1R; basal cell carcinoma; keratinocytes; pigmentation; skin cancer