title: The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
abstract: We have investigated the frequency and spectrum of CDKN2A/CDK4 mutations in 23 cutaneous melanoma families from Central Italy (Tuscany). Three distinct mutations were identified in five families. One mutation, p.G23S, was present in three families. Several lines of evidence indicate that p.G23S is a pathogenic mutation: it is located in the functionally important first ankyrinic domain of p16, it was not detected in a sample of 100 control individuals, and it was present in all tested affected individuals from the three families. Haplotype analysis showed a common ancestral origin of the p.G23S mutation. Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany.
authors.affiliation: Section of Medical Genetics, Department of Clinical Pathophysiology, University of Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Gensini
authors.forename: Roberta
authors.initials: R
authors.lastname: Sestini
authors.forename: Mauro
authors.initials: M
authors.lastname: Piazzini
authors.forename: Marina
authors.initials: M
authors.lastname: Vignoli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Chiarugi
authors.forename: Paola
authors.initials: P
authors.lastname: Brandani
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Camilla
authors.initials: C
authors.lastname: Salvini
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Borgognoni
authors.forename: Domenico
authors.initials: D
authors.lastname: Palli
authors.forename: Giovanna
authors.initials: G
authors.lastname: Bianchi-Scarrà
authors.forename: Paolo
authors.initials: P
authors.lastname: Carli
authors.forename: Maurizio
authors.initials: M
authors.lastname: Genuardi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*