A groundbreaking study conducted by researchers at the Sydney Brenner Institute for Molecular Bioscience (SBIMB) has identified two genetic variants associated with breast cancer in black South African women. Published in Nature Communications, this genome-wide association study (GWAS) marks a significant milestone as it is the first such research to focus on African women living on the continent. The findings not only enhance our understanding of breast cancer's genetic underpinnings in African populations but also underscore the importance of investing in genomic research tailored to African contexts. Currently, genetic factors account for approximately 30% of breast cancer cases in South Africa, highlighting the need for ancestry-specific tools and precision medicine.
For decades, breast cancer genetics research predominantly centered on European and Asian populations, often neglecting African ancestry. This new study fills a critical gap by focusing on black South African women enrolled in the Johannesburg Cancer Study and comparing them with participants from the Africa Wits-INDEPTH Partnership for Genomic Research (AWI-Gen). Through comprehensive DNA scanning, scientists pinpointed genetic signals near the RAB27A and USP22 genes, both previously unlinked to breast cancer. These discoveries could revolutionize treatment strategies by identifying potential drug targets that spare healthy tissue while targeting harmful cancer cells.
The implications of these findings extend beyond mere identification of genetic variants. Dr. Mahtaab Hayat, the lead author, emphasizes the significance of these discoveries in advancing breast cancer risk assessment and biology comprehension among women of African descent. Furthermore, the study highlights the limitations of polygenic risk scores (PRS), which perform poorly in distinguishing breast cancer cases in South African women due to their development based on European populations. Such inaccuracies reinforce the urgent need for ancestry-specific tools in cancer risk prediction.
Breast cancer remains the second most prevalent cancer in South Africa and the leading cancer among women globally. The study advocates for increased investment in genomic research within African contexts, arguing that such efforts can pave the way for precision medicine. If confirmed through further studies, the newly identified genes—USP22 and RAB27A—could serve as specific targets for innovative treatments. Additionally, biomarkers derived from these associations could help identify more aggressive cancers, guiding treatment intensity and monitoring needs.
Understanding complex diseases like breast cancer requires unraveling their genetic architecture. This knowledge aids in deciphering biological processes leading to such conditions and facilitates the discovery of drug targets and treatments suited to individuals with similar disease risk profiles. Notably, African populations exhibit unparalleled genetic diversity, yet they remain underrepresented in genomic research. As Dr. Hayat points out, this study demonstrates that genetic discoveries can benefit more people worldwide, revealing new risk factors waiting to be uncovered.
This pioneering research opens doors for broader applications in precision medicine and underscores the necessity of inclusive genomic studies. By focusing on African contexts, it not only addresses current gaps in breast cancer genetics but also sets the stage for future advancements in personalized healthcare solutions. The findings emphasize the importance of considering genetic diversity when developing global health strategies, ensuring equitable access to accurate diagnostic tools and effective treatments.