HEREDITARY BREAST AND OVARIAN CANCER SYNDROME (HBOC)

While we will pursue the description of the complex landscape of the molecular basis of breast cancer susceptibility and of the associated risks, we plan to exploit recently developed technological approaches, including Next Generation Sequencing. This will be applied to the examination of selected gene panels or of the entire exome or genome. More specifically, we intend to verify the occurrence of additional pathogenic founder mutations in population enriched in genetic isolates. Furthermore, we seek to investigate breast cancer patients who survived from pediatric malignancies. In a first step, an initial group of 20 patients will be submitted to whole exome sequencing. The outcomes of this analysis will be used to develop a dedicated gene panel, which will also include ascertained or putative breast cancer predisposition genes. The panel will be applied to the investigation of a second set of approximately 100 patients.

HEREDITARY DIGESTIVE TRACT TUMORS

Several genetic factors associated with hereditary susceptibility to cancer have been identified. Genetic test is routinely applied in clinical practice to search for germline cancer predisposing variants. This allows clinicians to identify, within cancer-prone families, at-risk individuals. Once the gene carriers are identified, it is possible to offer them the appropriate surveillance programs and/or other measures of risk reduction, such as chemoprevention or prophylactic surgery. Conversely, family members not found to be mutation carriers may be advised to follow the same recommendations of the general population. We are devoted to counseling, molecular testing, and clinical management of individuals with genetic predisposition to the major hereditary syndromes of gastrointestinal cancer. These include Lynch Syndrome (or Hereditary Non-Polyposis Colorectal Cancer  -HNPCC-), Familial Adenomatous Polyposis (FAP) and its variants Attenuated-FAP or MAP, Peutz Jeghers Syndrome, Juvenile Polyposis and Hereditary Gastric Cancer. Individuals with evidence of hereditary susceptibility to cancer are counseled and informed about personal and relatives risk. Depending of the fulfillment of defined clinical criteria, individuals who receive genetic counseling are offered the possibility to undergo molecular testing for identification of specific genetic alteration(s) that may be associated with the increased risk of cancer in their families. These criteria include personal and family history of cancer, specific clinical phenotypes, and tumor characteristics.