Epidemiology and Genetic Susceptibility of Breast and Ovarian Cancer in Sardinian Population

Abstract

Patients who carry a high-risk mutation in one or both of the BRCA genes (BRCA1 or BRCA2) have a significantly increased risk of developing breast/ovarian cancer (BOC) and other cancers (eg, prostate cancer in male). Epidemiological data on incidence distribution of breast/ovarian cancer from 2016 at 2019 in North Sardinia are obtained from the local tumor registry and from the cumulative results of 209 genetic testing for BRCA gene mutations performed to all young breast cancer patients and all women (over 50 years) with family history of BOC (total of 164 cases); further 45 genetic testing are performed, on ovarian cancer patients, at any age. The results provide a different distribution of fraction mutations carrying by women and a higher prevalence of the brca2 mutation in the north of Sardinia than the entire population and highlight the presence of specific germline mutation associated with the 'founder effect' in distinct genetic subgroups reflecting genetic drift. With advances in genome sequencing technology and reductions in the cost of nextgeneration sequencing, molecular profiling has become more accessible for clinical investigation and cancer research and allow to characterize those individuals who are potential targets for BRCA molecular-based therapeutics agents.