A groundbreaking study by Wits University has identified two new genetic variants linked to breast cancer in Black South African women. This research, published in Nature Communications, marks the first genome-wide association study (GWAS) of breast cancer conducted on African women living on the continent. The findings significantly advance the understanding of breast cancer genetics within African populations. Genomic research has historically underrepresented these populations.
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Pioneering Research at SBIMB
Researchers at the Sydney Brenner Institute for Molecular Bioscience (SBIMB) at Wits University conducted the study. By performing a genome-wide association study (GWAS), researchers scanned the DNA of numerous individuals. This was done to pinpoint genetic differences associated with breast cancer. This method allowed them to identify consistent genetic patterns in Black South African women.
Key Genetic Variants Identified
The SBIMB researchers discovered genetic signals near two genes:
- RAB27A: A member of the RAS oncogene family, known for its role in cell growth and tumorigenesis.
- USP22: A gene highly active in breast cancer cells and associated with poor health prognosis.
These genes had not previously been linked to breast cancer. This marks an important advance in understanding the disease’s genetic basis in African ancestry populations.
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Significance of the Findings
This study is significant because it addresses a critical gap in breast cancer genetics research. Historically, most studies have focused on European and Asian populations, with limited research on African women. The Wits University study helps to correct this imbalance by providing insights specific to women of African ancestry.
Lead author Dr. Mahtaab Hayat emphasized that these findings underscore the limitations of relying on data from predominantly European populations to understand complex diseases. She called for increased investment in genomic research rooted in African contexts.
Implications for Risk Prediction and Treatment
The study also found that existing tools for estimating lifetime cancer risk based on DNA, known as polygenic risk scores (PRS), performed poorly in distinguishing South African women with breast cancer from those without. Most PRSs were developed in European populations. This highlights the urgent need for ancestry-specific tools in cancer risk prediction.
Dr. Jean-Tristan Brandenburg, another lead author, noted that the inaccuracy of existing PRSs in African populations underscores the need for tools tailored to specific ancestries. This is crucial to improve cancer risk prediction and treatment strategies.
The Need for Continued Research
The researchers stress the importance of continued investment in genomic research within African populations. By expanding the scale and depth of these studies, scientists can uncover additional unique markers and pathways. This can ultimately lead to more effective and equitable cancer interventions.
The Wits University study represents a major step forward in understanding the genetic underpinnings of breast cancer in Black women. By identifying novel genetic variants and highlighting the limitations of existing risk prediction tools, this research paves the way for more targeted and effective strategies for breast cancer prevention, diagnosis, and treatment in African populations.
