Role of the EGF +61A>G polymorphism in melanoma pathogenesis: an experience on a large series of Italian cases and controls
- Equal contributors
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
BMC Dermatology 2009, 9:7 doi:10.1186/1471-5945-9-7Published: 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.