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

被引：16

作者：

Gensini, Francesca

Sestini, Roberta

Piazzini, Mauro

Vignoli, Marina

Chiarugi, Alessandra

Brandani, Paola

Ghiorzo, Paola

Salvini, Camilla

Borgognoni, Lorenzo

Palli, Domenico

Bianchi-Scarra, Giovanna

Carli, Paolo

Genuardi, Maurizio

机构：

[1] Univ Florence, Sch Med, Med Genet Sect, Dept Clin Pathophysiol, I-50139 Florence, Italy

[2] Univ Florence, Dept Dermatol, I-50121 Florence, Italy

[3] SM Annunziata Hosp, Reg Melanoma Referral Ctr, Plast Surg Unit, Bagno A Ripoli, Italy

[4] Univ Genoa, Dept Oncol Biol & Genet, Med Genet Serv, I-16126 Genoa, Italy

[5] CSPO Sci Inst Tuscany, Mol & Nutr Epidemiol Unit, Florence, Italy

[6] Fiorgen Fdn Pharmacogenom, Sesto Fiorentino, Italy

来源：

MELANOMA RESEARCH | 2007年 / 17卷 / 06期

关键词：

CDKN2A; hereditary melanoma; mutation; oral carcinoma; pancreatic cancer;

D O I：

10.1097/CMR.0b013e3282f1d328

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：387 / 392

页数：6

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