title: Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma.
abstract: The genetic basis of melanoma susceptibility among Greek patients is uncharacterized. From 107 consecutive cutaneous melanoma patients, we analyzed the CDKN2A and CDK4 loci among 18 early-onset (< or =40 years) and two multiplex melanoma cases. Overall, we found three CDKN2A mutations (3/20; 15%), including one novel nonsense mutation (Trp110Stop) and two Arg24Pro missense alterations. There were no mutations in ARF or CDK4. CDKN2A mutations are not uncommon among Greek melanoma patients considering that none of the mutation carriers reported a family history of melanoma.
authors.affiliation: Department of Dermatology, University of Athens Medical School, Andreas Sygros Hospital, Athens, Greece.
authors.forename: Alexander J
authors.initials: AJ
authors.lastname: Stratigos
authors.forename: Guang
authors.initials: G
authors.lastname: Yang
authors.forename: Remos
authors.initials: R
authors.lastname: Dimisianos
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Nicolaou
authors.forename: Irene
authors.initials: I
authors.lastname: Stefanaki
authors.forename: Andreas D
authors.initials: AD
authors.lastname: Katsambas
authors.forename: Hensin
authors.initials: H
authors.lastname: Tsao
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006115:Greece; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D020125:Mutation, Missense; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D019941:Cyclin-Dependent Kinase Inhibitor p16