A team of Nigerian scientists led by Professor Solomon Rotimi of the Department of Biochemistry, Covenant University, has achieved a groundbreaking milestone by conducting the first fully indigenous genetic study on BRCA1 and BRCA2 gene variants linked to breast cancer among Nigerian women.

The research, titled “Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients”, was published in the prestigious Technology in Cancer Research and Treatment journal. It represents a significant advancement in understanding breast cancer risks unique to Nigerian women — independent of foreign institutions or laboratories.

In a statement released Friday, Covenant University hailed the study as a major scientific achievement, noting that while BRCA1 and BRCA2 genes have been widely studied in Western populations, African cohorts — particularly Nigerian women — have been largely underrepresented or studied using foreign-led resources.

“Our team at Covenant University bridged this gap by publishing a first-of-its-kind, entirely local study to understand how variants in the BRCA1 and BRCA2 genes may contribute to breast cancer among Nigerian women,” the university stated.

The study employed advanced DNA sequencing technologies, all conducted in-house at Covenant University’s Cancer Genomics Laboratory, part of the Covenant Applied Informatics and Communication Center of Excellence (CApIC-ACE).

Key Findings:

• 7% of breast cancer patients in the study carried harmful mutations in BRCA1 or BRCA2.
• These harmful variants were exclusive to women with triple-negative breast cancer and a family history of cancer.
• No harmful BRCA mutations were found in the healthy women sampled.
• Unique BRCA haplotypes—genetic patterns not typically seen in other populations—were identified among Nigerian women.
• Several benign or uncertain BRCA variants were also discovered, which may contribute to cancer risk when combined with other genetic or environmental factors.

Why It Matters:

The findings underscore the need for population-specific genetic testing and early screening tools tailored to Nigerian women, as well as access to genetic counseling and personalized treatment options for those with BRCA-related breast cancer.

“This study is a milestone for African science. It demonstrates our capacity to conduct complex cancer genomics investigations independently, and it reveals that Nigerian women may carry unique genetic markers for breast cancer,” the statement added.

The research opens a new frontier for locally-driven precision medicine and sets the stage for improved breast cancer prevention, early diagnosis, and treatment strategies across the country.