Germline CDKN2A mutations among Greek patients with early-onset and multiple primary cutaneous melanoma.
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.
Stratigos
Alexander J
AJ
Department of Dermatology, University of Athens Medical School, Andreas Sygros Hospital, Athens, Greece.
Yang
Guang
G
Dimisianos
Remos
R
Nicolaou
Vasiliki
V
Stefanaki
Irene
I
Katsambas
Andreas D
AD
Tsao
Hensin
H
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*
D018389:Codon, Nonsense; D019941:Cyclin-Dependent Kinase Inhibitor p16