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Researchers at the Mayo Clinic have developed an advanced computational tool, named BACDAC, that exposes elusive structural changes within tumor DNA—alterations often missed by standard tests, especially when tissue samples are small or degraded. These hidden genetic patterns are among the most harmful in cancer, fueling aggressive growth and enabling tumors to resist conventional therapies.
BACDAC leverages whole-genome sequencing to detect signs of genomic instability, even in samples with low purity or coverage. At the heart of its approach is the analysis of ploidy, the number of complete chromosome sets in a cell. While normal human cells have two sets (46 chromosomes), cancer cells frequently exhibit large-scale gains or losses, disrupting this balance and promoting unchecked growth.
In a study published in Genome Biology, the Mayo Clinic team used BACDAC to analyze over 650 tumors across 12 cancer types. The tool successfully identified instances of whole-genome doubling, where a tumor duplicates all its DNA—an abnormality linked to aggressive behavior and treatment resistance. “This tool lets us see a layer of the genome that’s been invisible until now,” said Dr. George Vasmatzis, a lead author and co-director of Mayo Clinic’s Biomarker Discovery Program.
BACDAC also generates a visual summary called the Constellation Plot, providing an intuitive overview of whether a tumor’s chromosomes are stable or disrupted. This feature aims to help researchers and pathologists interpret genomic data more easily and inform treatment decisions.
The Mayo Clinic team is now working to further validate BACDAC and refine it for clinical use, with the goal of providing physicians with a clearer view of a tumor’s structural changes to guide more personalized treatment strategies.
Disclaimer:
This news article is based on information from the referenced source and is intended for educational and informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult your healthcare provider for any health concerns. The views expressed are those of the cited researchers and do not necessarily reflect the official policy or position of any institution.
