A groundbreaking study has identified two genetic variants that may increase breast cancer risk in Black South African women. The research, published in Nature Communications, is the first large-scale genetic study of breast cancer in African women living on the continent.
Led by scientists at the Sydney Brenner Institute for Molecular Bioscience (SBIMB), the study found genetic signals near two genes—RAB27A and USP22—that are linked to breast cancer.
These genes are involved in cell growth and have been associated with aggressive forms of cancer in past research. Their identification opens the door to targeted therapies that could be more effective for African women.
Researchers used a genome-wide association study (GWAS) method to scan DNA from South African women with and without breast cancer.
Unlike previous studies that focused mostly on women of European or Asian descent, this research centers on African genomes, revealing genetic patterns previously missed.
One key takeaway is that existing tools like polygenic risk scores (PRS)—which predict cancer risk based on DNA—do not work well for African women. These scores were originally developed using data from European populations, leading to inaccuracies when applied elsewhere. The study highlights the need to build ancestry-specific tools for better cancer screening and care.
Why This Matters for Health:
Breast cancer is the most common cancer in women globally and the second most common in South Africa. Genetic factors play a role in about 30% of cases. Early detection and personalized care can save lives, but only if the tools and treatments reflect the genetic diversity of all people.
Potential Benefits Ahead:
These gene discoveries could lead to new drug targets that attack cancer cells while sparing healthy ones.
Biomarkers may help doctors identify more aggressive cancers earlier.
Precision medicine could help tailor treatments to an individual’s genetic risk.
Health Advice:
If you have a family history of breast cancer, discuss genetic counseling with your doctor.
Women of African descent should be aware that their genetic risk may differ from current general risk models.
Regular screenings, self-exams, and lifestyle choices—like maintaining a healthy weight and limiting alcohol—remain essential for early detection and prevention.
This study is a reminder that genomic research needs to reflect global diversity to ensure better health outcomes for everyone.
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