A groundbreaking study on patients from Angola and Cape Verde has significantly expanded our understanding of TNBC in Sub-Saharan Africa. By sequencing both coding and regulatory regions, researchers found a higher somatic mutation burden compared to other global cohorts, with 86% of variants previously unreported.
Key findings include:
17% of mutations likely have damaging effects at the protein level.
20% overlap with gene regulatory regions.
TP53 remains the top driver gene, but novel candidates like TTN, EACAM7, DEFB132, COPZ2, and GAS1 were also identified.
These discoveries highlight the urgent need for more inclusive cancer genomics research, especially across the highly diverse African continent.
Learn more: https://www.nature.com/articles/s41598-025-94707-6