The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

Francesca Gensini, Roberta Sestini, Mauro Piazzini, Marina Vignoli, Alessandra Chiarugi, Paola Brandani, Paola Ghiorzo, Camilla Salvini, Lorenzo Borgognoni, Domenico Palli, Giovanna Bianchi-Scarrà, Paolo Carli, Maurizio Genuardi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)387-392
Number of pages6
JournalMelanoma Research
Issue number6
Publication statusPublished - Dec 2007


  • CDKN2A
  • Hereditary melanoma
  • Mutation
  • Oral carcinoma
  • Pancreatic cancer

ASJC Scopus subject areas

  • Cancer Research
  • Dermatology


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