Johannesburg, South Africa – A groundbreaking study by the University of the Witwatersrand (Wits University) has identified two gene variants never before linked to breast cancer, marking a significant milestone in understanding the disease among African women. The discovery is a major advancement in the field of genomics and could pave the way for earlier diagnosis and improved treatment for black South African women.
A First for the African Continent
Researchers at Wits University announced that the newly discovered genes—found in black women with breast cancer—are the first such genetic variants identified in any population on the African continent. According to Dr. Mahtaab Hayat, a leading scientist on the project, “These gene variants were previously unknown to science. Their discovery is crucial in understanding the biological and hereditary factors of breast cancer specifically in African women.”
Approximately 30% of breast cancer cases in South Africa are believed to have genetic origins, underscoring the urgent need for localized genomic research. Until now, most breast cancer genetics studies have focused on Western populations, leaving African women underrepresented in the data.
Barriers to Awareness and Access
The findings come against the backdrop of widespread challenges in South Africa’s public health system. In black communities, cancers such as breast, cervical, and prostate remain prevalent but are often diagnosed too late due to a lack of awareness, limited screening programs, and inadequate healthcare infrastructure.
These systemic barriers make stories like that of Minky Maine, a 33-year-old breast cancer survivor from Lebotelwane village in the North West Territory, especially compelling. Diagnosed at just 18 while studying, Maine had no prior knowledge of the disease. Her cancer was detected during a school health program, allowing for early intervention and successful removal of the tumor before it could spread.
“It was the scariest moment of my life,” Maine recalls. “But early detection saved me. Public awareness is everything.”
From Personal Loss to Community Impact
In the same village, Mothupi Malebye turned personal grief into community action. After losing four family members to cancer, he founded the Save Lives Foundation, a non-profit dedicated to educating rural communities about early detection and supporting those affected by the disease.
“Most people in our community didn’t even know what cancer was until it was too late,” said Malebye. “There are massive gaps in access to care. That’s why we started the foundation.”
The organization partners with local health departments to offer screenings, education campaigns, and treatment referrals—a model that could be replicated in other underserved areas.
A Call to Action for Genomic Research
The Wits University study emphasizes the importance of expanding genetic research in African populations, which have historically been excluded from large-scale clinical trials and genome studies.
“Understanding the specific genetic risks for African women allows for more targeted screening tools and treatments,” said Dr. Hayat. “It’s a huge step toward equity in cancer care.”
With these discoveries, researchers are calling for increased funding in genomic medicine, particularly for African-led initiatives that address the unique genetic makeup of local populations.
A New Chapter in the Fight Against Breast Cancer
The identification of these gene variants not only highlights a major scientific breakthrough but also reinforces the value of community outreach, survivor advocacy, and inclusive research. For women like Minky Maine and organizations like the Save Lives Foundation, the message is clear: early detection, awareness, and culturally-informed healthcare can and do save lives.
As South Africa continues its fight against cancer, this research offers a hopeful glimpse into a future where diagnosis and treatment are faster, more accurate, and more inclusive of all genetic backgrounds.
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