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Role of the EGF +61A>G polymorphism in melanoma pathogenesis: an experience on a large series of Italian cases and controls

Milena Casula1, Mauro Alaibac2, Maria A Pizzichetta3, Riccardo Bono4, Paolo A Ascierto5, Ignazio Stanganelli6, Sergio Canzanella7, Grazia Palomba1, Edoardo Zattra2, The Italian Melanoma Intergroup (IMI) and Giuseppe Palmieri1*

Author Affiliations

1 Unit of Cancer Genetics, Institute of Biomolecular Chemistry, Consiglio Nazionale delle Ricerche, Sassari, Italy

2 Department of Dermatology, University of Padua, Padua, Italy

3 Division of Medical Oncology, Centro di Riferimento Oncologico, Aviano, Italy

4 Department of Dermatology, Istituto Dermopatico dell'Immacolata, Roma, Italy

5 Unit of Medical Oncology and Innovative Therapy, National Cancer Institute Fondazione Pascale, Napoli, Italy

6 Dermoscopy Unit, Tumor Institute Romagna, Meldola, Forli, Italy

7 Unit of Skin Cancer Prevention, Association House Hospital Onlus, Napoli; Italy

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BMC Dermatology 2009, 9:7  doi:10.1186/1471-5945-9-7

Published: 22 July 2009



A single nucleotide polymorphism (61A>G) in the epidermal growth factor (EGF) gene has been implicated in both melanoma pathogenesis and increased melanoma risk. To further evaluate this association, we conducted a case-control study in a clinic-based Italian population.


Individuals with less than 10 (N = 127) or more than 100 (N = 128) benign nevi, and patients with cutaneous melanoma (N = 418) were investigated for the EGF +61A>G polymorphism, using an automated sequencing approach.


Overall, no difference in EGF genotype frequencies was observed among subjects with different number of nevi as well as when non-melanoma healthy controls were compared with the melanoma patients. However, a heterogeneous distribution of the frequencies of the G/G genotype was detected among cases and controls originating from North Italy (21.1 and 18.3%, respectively) vs. those from South Italy (12.6 and 17.1%, respectively).


Our findings further suggest that EGF +61A>G polymorphism may have a limited impact on predisposition and/or pathogenesis of melanoma and its prevalence may vary in different populations.