Development of a genetic-based prediction model for cardiovascular disease and cancer risk assessment in neurofibromatosis type 1

Neurofibromatosis 1 (NF1) is a genetic disease associated with a variety of skin abnormalities and an increased risk of developing cardiovascular disease and cancer. About one third of people with NF1 die before age 45; usually from one of these complications. However, the risk of developing cardiovascular disease and cancer is not the same in all NF1 patients, with some people at higher risk of developing these complications. These differences are seen both between families with different mutations of the gene that causes NF1 and within families with the same mutation. Alessandro De Luca is exploring whether certain specific alterations of the NF1 gene and differences in other genes that interact with the NF1 gene are linked to an increased risk of cardiovascular disease and cancer. Alessandro is studying the frequency of particular NF1 mutations and variants of interacting genes in NF1 patients with and without cancer and cardiovascular disease. The ultimate aim of his research is to develop a panel of genetic markers that can be used to predict the risk of developing cardiovascular disease or cancer in patients with NF1.