부산대학교 도서관

Simple Summary: Hereditary pathogenic/likely-pathogenic variants (PVs/LPVs) of BRCA1 and BRCA2 genes are the principal genetic cause of breast cancer (BC), ovarian cancer (OC), and other malignancies such as prostate (PrC) and pancreas (PC) carcinomas. The proportion of BRCA1 vs. BRCA2 is specific to various populations in different regions, and several PVs have been observed to be founders, besides recurring in narrow geographical areas. In our study, in a selected cohort of subjects characterized by a common local origin and a cancer family history, we identified a BRCA2 PV that was further analyzed and correlated to the risk of PC onset. PVs and LPVs in BRCA1/2 genes are correlated to a high risk of developing breast cancer and/or ovarian cancer (Hereditary Breast and Ovarian Cancer syndrome, HBOC); additionally, in recent years, an increasing number of BRCA 1/2 variants have been identified and associated with pancreatic cancer. Epidemiologic studies have highlighted that inherited factors are involved in 10% to 20% of PCs, mainly through deleterious variants of BRCA2. The frequency of BRCA1/2 germline alterations fluctuates quite a lot among different ethnic groups, and the estimated rate of PVs/LPVs variants in Italian HBOC families is not very accurate, according to different reports. The aim of our study is to describe the prevalence of a BRCA2 PV observed in a selected cohort of HBOC patients and their relatives, whose common origin is the eastern coast of Emilia Romagna, a region of Italy. This study provides insight into the frequency of the variant detected in this area and provides evidence of an increased risk of pancreatic and breast cancer, useful for genetic counseling and surveillance programs. [ABSTRACT FROM AUTHOR]