A new landmark genetic study has uncovered important insights into breast cancer risk among South African women. The research, led by a collaborative team of scientists and published in Nature, used genome-wide association analysis (GWAS) to explore genetic variants linked to breast cancer in this historically underrepresented population.
By analyzing over 3,500 participants (including 2,485 breast cancer cases), the study identified two significant risk loci—one between the UNC13C and RAB27A genes on chromosome 15, and another within the USP22 gene on chromosome 17. These findings mark the first time these regions have been linked to breast cancer in African populations.
Interestingly, the study also found that polygenic risk scores (PRS) developed from European ancestry datasets poorly predicted risk in this group—explaining less than 1% of the variance. This underlines a growing call in the genomics community: the need for African-specific data to create more accurate and equitable tools for disease prediction and prevention.
Ultimately, this research reinforces the importance of diversity in genomic studies and highlights how African biobanks and community-centered research can reshape global health outcomes.
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Read the full article here:
https://www.nature.com/articles/s41467-025-58789-0