Overview

• The Sydney Brenner Institute for Molecular Bioscience conducted the first genome-wide association study (GWAS) of breast cancer in African women living on the continent.
• Two genetic variants, RAB27A and USP22, were identified as being linked to breast cancer in black South African women, representing a significant advance in understanding breast cancer biology in African populations.
• Existing polygenic risk scores, developed using European populations, were found to perform poorly in African contexts, underscoring the need for ancestry-specific risk prediction tools.
• If further validated, RAB27A and USP22 could serve as targets for precision cancer therapies and biomarkers for identifying aggressive breast cancer cases.
• The study emphasizes the underrepresentation of African populations in genomic research and calls for investment in African-centered genomics to address health disparities and improve disease outcomes.