New Genetic Study Reveals Breast Cancer Risk Factors in African Women

Breast cancer remains the most common cancer diagnosed among women worldwide and is a significant cause of cancer-related deaths in sub-Saharan Africa. A groundbreaking study conducted by researchers from Wits University, the Sydney Brenner Institute for Molecular Bioscience, and the South African National Cancer Registry has provided new insights into genetic factors influencing breast cancer risk in African women.

This study is notable as it is the first genome-wide association analysis focusing specifically on a sub-Saharan African population. It involved comparing genetic data from 2,485 women diagnosed with breast cancer to 1,101 women without the disease, all residents of Soweto, South Africa. Using advanced DNA chip technology designed for African populations, the researchers identified two genetic variants near the RAB27A and USP22 genes that are associated with increased breast cancer risk. These variants had not been previously linked to breast cancer in non-African populations.

The findings highlight the importance of recognizing population-specific genetic differences, as variants that contribute to breast cancer risk in Europeans may not be relevant in African populations. The study also used polygenic risk scores, which estimate individual risk based on multiple genetic factors, but found that scores derived from European data were less predictive in the African cohort. This underscores the need for more diverse genomic research.

This research marks a critical step towards personalized medicine in Africa. Larger studies encompassing more diverse populations are essential to improving risk prediction, early detection, and targeted prevention strategies. Understanding unique genetic factors in African women can lead to more effective screening and intervention programs, ultimately reducing the burden of breast cancer on the continent.

Participation in global efforts like the Confluence project aims to further explore genetic risk factors across different populations, fostering inclusive research that benefits global health. Future investigations will deepen understanding of how these genes influence tumor development and metastasis, paving the way for tailored treatments and preventive measures.

Source: https://medicalxpress.com/news/2025-09-breast-cancer-genetic-african-women.html