The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.
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.
Gensini
Francesca
F
Section of Medical Genetics, Department of Clinical Pathophysiology, University of Florence, Italy.
Sestini
Roberta
R
Piazzini
Mauro
M
Vignoli
Marina
M
Chiarugi
Alessandra
A
Brandani
Paola
P
Ghiorzo
Paola
P
Salvini
Camilla
C
Borgognoni
Lorenzo
L
Palli
Domenico
D
Bianchi-Scarrà
Giovanna
G
Carli
Paolo
P
Genuardi
Maurizio
M
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*