Carmela Rinaldi, José Freni
PTEN is a gate-keeper tumor-suppressor gene involved in various cell cycle pathways. Germline mutations of one allele of PTEN were found associated with Cowden syndrome, which is an inherited disease characterized by multiple hamartomas. PTEN is frequently inactivated also by somatic mutations in various array of human tumors. In this study,a cohort of 50 Sicilian breast cancer patients, negative to screening for pathogenic mutations in BRCA1/2 genes, was analyzed. Variant c.492+46 G>A (rs775537003) in intron 5 of PTEN gene was identified. The possible role of this variant in splicing mechanisms was evaluated by in silico analysis. Alteration of an ESE and ESS site was found. This is a preliminary study with the aim to investigate about the involvement of PTEN gene in the breast cancer and the possible role of splicing alteration events into the risk of the disease.