High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer

Abstract

The objective of this study was to determine the rate of germline high risk ovarian cancer susceptibility pathogenic variants in Somali patients with ovarian carcinoma treated at a single institution between 2015 and 2022. Out of eight identified patients, five underwent germline and/or somatic testing, revealing a high prevalence (3 of 5, 60 %) of a BRIP1 splice site mutation (c.1936 + 1G > A). Additionally, one patient had a BRCA2 pathogenic variant, and two had the same MLH1 variant of uncertain significance. The high prevalence of BRIP1 pathogenic variants warrants further study into a possible founder effect within the Somali population, emphasizing the need for targeted genetic screening and counseling. The study also highlights significant barriers to genetic testing, pointing to the critical role of healthcare disparities and social determinants of health (SDoH) in cancer outcomes. Comprehensive genomic profiling and community-based research are essential to address these disparities and improve cancer care for this underserved population. Larger studies are needed to validate these findings and to develop tailored interventions that enhance the prevention, diagnosis, treatment, and prognosis of ovarian cancer in Somali women.

Keywords

• BRIP1 pathogenic variant
• Ovarian cancer
• Somali women
• Germline testing
• Healthcare disparities
• Genetic screening