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Genetic research

Shining a Light on Elusive Genomic Patterns in Cancer

Strategic Insights

— 1 min read

Mayo Clinic researchers have been working on a cutting-edge computational tool to identify and analyze the most harmful genetic changes in cancer, which can be difficult to spot even with DNA sequencing. The tool, called BACDAC, not only helps researchers detect signs of genomic instability but also provides a visual summary of a tumor's genomic landscape. This innovation could revolutionize the way clinicians predict tumor behavior and guide treatment choices, making them more personalized and effective.

Key Takeaways:

  • BACDAC, a new computational tool, has been developed to identify structural alterations in cancer DNA that can fuel aggressive growth and evade standard testing.
  • The tool uses DNA sequencing to analyze the entire genome, even in low-purity or low-coverage samples, to detect signs of genomic instability.
  • In a study published in Genome Biology, researchers used BACDAC to analyze over 650 tumors across 12 cancer types, demonstrating its effectiveness in detecting whole-genome doubling.
  • The tool provides a visual summary of a tumor's genomic landscape through the Constellation Plot, helping researchers and pathologists interpret results more easily.
  • BACDAC can help inform treatment decisions by providing a clearer view of a tumor's structural changes, making treatment choices more personalized.

Statistics:

  • 650 tumors across 12 cancer types were analyzed using BACDAC in the study published in Genome Biology.
  • The tool detected signs of whole-genome doubling in over a third of the analyzed tumors.
  • 46 is the normal number of chromosomes in a human cell, but cancer cells often show large-scale gains or losses, disrupting this balance.
  • 12 cancer types were used in the study to analyze the effectiveness of BACDAC.
  • The study was supported in part by the Mayo Clinic Center for Individualized Medicine and the Mayo Clinic Center for Digital Health.

Sources:

  • Genome Biology ( study on tumour analysis using BACDAC)
  • Mayo Clinic Center for Individualized Medicine (support for the study)
  • Mayo Clinic Center for Digital Health (support for the study)

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