Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Abstract

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.

Pancreatic Cancer: From Genetic Mechanisms to Translational Challenges

“…The frequency of BRCA1/2 GPVs fluctuates between different ethnic groups, and it depends on the selection criteria. Consistent with this, a study by Zampiga et al confirms the prevalence of BRCA2 GPVs among PDAC patients with hereditary breast-and-ovarian-cancer-prone families [ 2 ]. Dal Buono et al show that 20% of their cohort of PDAC cases were associated with clinically relevant GPVs in known predisposition genes [ 3 ].…”