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Article

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

Melanoma research - 1 Dec 2007

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

Abstract excerpt

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 i...

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Identifiers

PMID: 17992122
DOI: 10.1097/CMR.0b013e3282f1d328

Genes

CDK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17992122-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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