Families with a history of breast or ovarian cancer may soon have access to a powerful new tool that can help identify cancer risk earlier and more accurately.
Scientists from the University of Copenhagen and Denmark’s Rigshospitalet have created and tested a new method that can determine whether certain inherited gene mutations are dangerous—long before cancer develops.
The method focuses on hereditary genetic mutations, especially in the BRCA2 gene, which is known to increase the risk of breast, ovarian, pancreatic, and prostate cancers. For years, doctors have been able to test for BRCA2 mutations, but often, the results showed something uncertain—a “variant of unknown significance.”
This meant that doctors couldn’t tell if a mutation was harmful or harmless, making it hard to plan treatment or preventive care.
But now, that uncertainty may be changing. The research team has developed a method that can classify these unclear mutations with much greater confidence.
Using advanced gene-editing technology called CRISPR-Select, they tested 54 different variants of BRCA2 that had unclear effects. The results are promising: the method can clearly show whether each mutation is likely to cause disease or not.
Dr. Maria Rossing, the lead researcher and a clinical professor at the University of Copenhagen, explained the importance of the findings. “If we know a person carries a harmful mutation, we can act before cancer develops,” she said. “We can offer early screening, preventive surgery, and faster treatment if cancer does appear. But we need accurate information to do that.”
Every person is born with genetic mutations. Most of them are harmless and don’t cause health problems. However, a small number can increase the risk of serious illnesses like cancer. The problem is that science hasn’t yet figured out the meaning of every possible mutation. Some are still a mystery, which can leave patients in limbo.
Until now, if a genetic test found one of these unknown mutations, patients were simply told, “We don’t know if this is dangerous.” Doctors couldn’t use that information to guide care. This new method could change that, making it possible to give patients clear answers and better options.
The technique was tested in a real hospital setting, using samples from patients all over the world. It works by editing cells to include the mutation in question, exposing those cells to chemotherapy, and then studying how they respond.
This tells researchers whether the mutation makes cells behave in a way that suggests cancer risk. The results are then matched with international standards to make sure the classification is accurate.
Another big advantage of the project is that the results are being shared globally. The researchers are updating international databases with their findings. So now, when doctors in any country search for one of the 54 tested mutations, they’ll be able to see whether it’s harmful or not—based on this Danish team’s work.
This means that the benefits of the research go far beyond Denmark. Families around the world could soon receive better answers about their cancer risk. As Rossing put it, “This has implications far beyond Danish patients.”
While the method is not yet in full use across all hospitals, the collaboration between BRIC at the University of Copenhagen and Rigshospitalet has proven that it works well in a clinical setting. The hope is that it will be adopted on a wide scale, helping many more families make informed health decisions.
In short, this new testing method could mean fewer people live with uncertainty about their cancer risk. It could lead to earlier prevention, more accurate treatment, and ultimately, save lives. For families affected by hereditary breast and ovarian cancers, this research is a major step forward in giving them the answers—and the hope—they’ve been waiting for.
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The research findings can be found in Journal of Clinical Investigation.
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