The objective of this population-based study is to describe epidemiological and genetic features of breast and ovarian cancer in North Sardinia, Italy. 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 (e.g., prostate cancer in male). Epidemiological data on incidence distribution of breast/ovarian cancer from 2016 to 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 in all young breast cancer patients and all women (over 50 years) with family history of BOC (total of 164 cases); further, 45 genetic testing is performed, on ovarian cancer patients, at any age. The results provide a different distribution of fraction mutations carried 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. Advances in next-generation sequencing technology, data analysis, and clinical investigation have revolutionized efforts to identify potential targets for BRCA molecular-based therapeutic agents.
Part of the book: Breast Cancer and Breast Reconstruction