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

Abstract

<p>Abstract</p> <p>Background</p> <p>A single nucleotide polymorphism (61A>G) in the epidermal growth factor (<it>EGF</it>) 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.</p> <p>Methods</p> <p>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 <it>EGF </it>+61A>G polymorphism, using an automated sequencing approach.</p> <p>Results</p> <p>Overall, no difference in <it>EGF </it>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).</p> <p>Conclusion</p> <p>Our findings further suggest that <it>EGF </it>+61A>G polymorphism may have a limited impact on predisposition and/or pathogenesis of melanoma and its prevalence may vary in different populations.</p