title: CDKN2A and MC1R variants found in Cypriot patients diagnosed with cutaneous melanoma.
abstract: The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variations within CDKN2A. MC1R screening in 32 patients revealed the following variations: p.Val60Leu in 11 patients, p.Arg142His in four patients, p.Thr314Thr in one patient, p.Arg160Trp in one patient, p.Val92Met/p.Thr314Thr in one patient and p.Val92Met/p.Arg142His/p.Thr314Thr in one patient. The control group revealed only p.Val60Leu (in 10 of 45 individuals), which is frequently found in general populations. Two unrelated patients carried CDKN2A p.Ala148Thr in combination with MC1R p.Arg142His, suggesting digenic inheritance that may provide evidence of different gene variants acting synergistically to contribute for CM development. This study confirms the presence of CDKN2A and MC1R variants among Cypriot melanomas and supports existing evidence of a role for these variants in susceptibility to melanoma.
authors.affiliation: Department of Plastic Surgery and Burn Unit, Nicosia General Hospital, Nicosia 2029, Cyprus. hsc.pm@frederick.ac.cy.
authors.forename: Georgia
authors.initials: G
authors.lastname: Koulermou
authors.forename: Christos
authors.initials: C
authors.lastname: Shammas
authors.forename: Andreas
authors.initials: A
authors.lastname: Vassiliou
authors.forename: Tassos C
authors.initials: TC
authors.lastname: Kyriakides
authors.forename: Constantina
authors.initials: C
authors.lastname: Costi
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
authors.forename: Maria
authors.initials: M
authors.lastname: Pantelidou
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006115:Greece; D006801:Humans; D008297:Male; D008545:Melanoma / Q000175:diagnosis* / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics*; D000096142:Cutaneous Malignant Melanoma
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D044102:Receptor, Melanocortin, Type 1