title: Novel CDKN2A mutation detected in Spanish melanoma pedigree.
abstract: We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), major melanoma predisposing genes, in a Spanish melanoma-prone population comprising 61 patients from 45 families. Using an extensive genetic analysis of these genes, including sequence analysis and multiplex ligation-dependent probe amplification, we have found four different CDKN2A alterations in cases from seven melanoma kindred. Three of them are CDKN2A mutations previously described in the Mediterranean population (p.G101W, p.V59G and c.358delG) in addition to an undescribed deletion (p. M54del) which has been detected in a melanoma kindred. This codon deletion affects an essential residue in the interaction of p16INK4A with cdk6 and has not been reported in melanoma patients and other cancers.
authors.forename: Carlos
authors.initials: C
authors.lastname: de Torre
authors.forename: Jorge
authors.initials: J
authors.lastname: Martínez-Escribano
mesh_terms: D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008545:Melanoma / Q000208:ethnology* / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000208:ethnology* / Q000235:genetics*; D013030:Spain
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16