The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer

Background: Breast cancer (BC) is the leading female cancer globally, with Bahrain having the highest incidence in the GCC. In this study, we aimed to identify and describe the high-risk pathogenic/likely pathogenic mutations in a cohort of 160 Bahraini patients who underwent genetic testing for hereditary cancer susceptibility genes. Methods: This study included 160 women referred to Bahrain's Government Hospitals for genetic analysis between January 2021 and May 2024. All women underwent NGS cancer gene panel testing. Demographic and clinical data were recorded for each patient. Categorical variables were described using frequencies and percentages, and continuous data was depicted using means and standard deviations or medians. Results: Pathogenicity was significantly higher in individuals with high-risk mutations compared to those with medium- and low-risk mutations. However, mortality was highest among those with medium-risk mutations, exceeding that of both the high- and low-risk groups. Conclusions: In Bahrain, the genetic profile of BC germline mutations aligns closely with international data. However, further research is needed to assess moderate- and low-risk mutations and their pathogenicity within the diverse ethnic populations of the Middle East.