Predictive Medicine: Molecular Bases of Genetic Risk

The activities of this research unit are aimed at identifying and characterizing genetic factors associated with hereditary predisposition to cancer and cancer progression. Our studies focus on familial breast and ovarian cancer (HBOC) and Wilms tumor (WT). 

With regard to HBOC, our research is primarily directed toward evaluating the association with cancer risk of a subset of germline variants identified in the genes responsible for this inherited condition (termed variants of uncertain significance, VUS), whose clinical relevance is currently unknown. This goal is being pursued through the development and application of functional assays that assess the effect of VUS on gene transcripts and protein products. The ultimate goal is to increase the informativeness and clinical utility of genetic testing for the identification of high-risk individuals. In addition, the unit actively collaborates in international consortia aimed at deciphering the complex scenario of hereditary predisposition to breast cancer. 

WT is the most common childhood kidney tumor with a survival rate of more than 90%. However, lasting remission is observed in only half of the children in whom the tumor recurs. Our studies aim to identify genetic and epigenetic markers associated with WT recurrence in order to select patients eligible for more aggressive therapeutic treatments that can impact their survival. This goal is also pursued through participation in study protocols coordinated by the Renal Tumor Study Group of the International Society of Pediatric Oncology (SIOP-RTSG), aimed at validating new prognostic factors that improve the outcome of patients with WT.