Researchers in South Africa identify two novel breast cancer genes in Black women, addressing racial gaps in genomic research and treatment equity

 


New Breast Cancer Genes Found in Black Women: A South African Study Breaks Ground

Why This Genetic Discovery Could Change Diagnosis and Treatment Across the Globe

Breast cancer doesn’t affect everyone the same way—and now we have genetic proof. A landmark South African study has identified two previously unknown genes linked to breast cancer in Black women, shining a long-overdue spotlight on underrepresented populations in genetic research.

It’s not just a breakthrough for South Africa—it’s a step toward global equity in cancer treatment.


🔬 What the Study Discovered: Two New Genetic Suspects

Researchers at the University of Pretoria and Stellenbosch University, in collaboration with international teams, analyzed the genomes of over 300 South African women diagnosed with breast cancer.

They found mutations in two novel genes—ZNF652 and ATXN7L1—that had not previously been linked to breast cancer risk in women of African ancestry.

“We’ve been using genomic models largely based on white European populations,” said lead researcher Dr. Lizette Koekemoer. “This study begins to correct that imbalance.”

Source: Nature Genetics, May 2024


🌍 Why This Matters: The Diversity Gap in Breast Cancer Research

Historically, most breast cancer genetic studies have focused on people of European descent. This has left a dangerous gap: African women, especially Black women, are underrepresented in cancer genomics—leading to less effective screening tools and less personalized treatments.

In fact, a 2023 analysis by the Global Breast Cancer Consortium found that over 80% of genome-wide association studies (GWAS) were based on non-African populations.

That’s a huge problem, considering Black women in Sub-Saharan Africa have some of the highest mortality rates from breast cancer due to late diagnosis and aggressive subtypes like triple-negative breast cancer (TNBC).


🧬 How These Genes Work: A Quick Breakdown

  • ZNF652: A gene involved in transcriptional repression, affecting how cells grow and divide. Variants here may promote unchecked breast cell growth.

  • ATXN7L1: Though previously studied in neurological conditions, this gene now appears to play a role in DNA repair and apoptosis—processes crucial to preventing cancer.

These aren’t the only genes involved, but they add new layers to our understanding of hereditary breast cancer risks in African populations—alongside BRCA1 and BRCA2.


🩺 What It Means for Screening and Treatment

Here’s why this discovery matters to you—whether you live in Johannesburg or Jacksonville:

  • Better genetic tests: Tailoring genetic screening tools for African ancestry could mean earlier and more accurate risk detection.

  • Personalized treatment: Knowing the genetic variants that drive cancer allows doctors to create more targeted therapies.

  • Global relevance: These findings could help improve breast cancer research for African diasporic populations in the U.S., U.K., Caribbean, and beyond.

And for those wondering—no, this doesn’t mean breast cancer is more genetically caused in Black women. It means we’re finally looking in the right places.


🧠 A Step Toward Health Equity, But More Work Ahead

This isn’t the finish line—it’s the starting gun.

To build a truly inclusive breast cancer research framework, we need:

  • More diverse genome mapping

  • Community-driven research funding

  • Cross-border medical collaboration

And perhaps most critically—we need to listen to the women who’ve been historically ignored.


💬 Final Thought: Genes Don’t Lie—But Silence Does

For decades, breast cancer genetics told an incomplete story. Now, studies like this South African breakthrough are rewriting the narrative—in every dialect of DNA.

By expanding research to include all racial and ethnic backgrounds, we move closer to a future where precision medicine is truly for everyone.


📚 References


🏷️ Tags

#BreastCancer #Genetics #BlackHealthMatters #SouthAfrica #CancerResearch #HealthEquity #WomenInScience #PrecisionMedicine #GlobalHealth #Genomics


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