Medical Genetics

The main objective of the Unit is to identify individuals at increased genetic risk and, within an integrated medical care pathway of genetic counseling, to provide appropriate surveillance programs (aimed at early diagnosis) and possible preventive options (risk factor modification, risk-reducing surgery). 

Approximately 10% of all cancer cases are known to be associated with an inherited predisposition, which often presents with specific features. Identifying these conditions is crucial in order to rationalize and personalize prevention and early detection strategies, with benefits both for the individual and public health. Individuals at increased genetic risk of cancer represent a specific subgroup within the population that requires tailored medical management and a distinct clinical approach compared to standard prevention programs for the general population. 

Oncogenetic counseling is therefore offered to individuals who may benefit from an assessment of their genetic cancer risk - namely, those with a personal and/or family history of cancer suggestive of a hereditary cancer predisposition syndrome. 

Once a pathogenic variant is identified in the family, genetic testing makes it possible to distinguish family members at increased genetic risk from those at average population risk. 

The Unit’s oncogenetic counseling pathway is outlined in Attachment 1 (see link to Attachment 1). 

The Unit provides outpatient services only and is primarily dedicated to patients with a suspected hereditary predisposition to breast and/or ovarian cancer. It also manages other cancer predisposition syndromes, particularly those presenting in childhood (see link to multidisciplinary team sheet – S.C. Pediatria). 

In recent years, also through participation in the Molecular Tumor Board, the Unit has been involved in the evaluation of genetic testing results performed on tumor tissue. When appropriate, targeted germline testing is offered to verify the presence of the variants identified in the tumor (see link to multidisciplinary team sheet – S.C. Anatomia Patologica 2). 

The Unit also contributes to the activities of the Breast Unit (see link to multidisciplinary team sheet – S.C. Senologia). 

For several years, the Unit has had an educational agreement with the Medical Genetics Residency Program of the Faculty of Medicine and Surgery at the University of Milan, offering lectures and clinical tutoring to residents.