Families with a history of breast or ovarian cancer may soon benefit from a powerful new genetic testing method that could provide clearer answers about inherited cancer risk.
Researchers from the University of Copenhagen and Denmark’s Rigshospitalet have developed a new approach that can identify whether certain genetic mutations are dangerous long before cancer develops.
The research focuses mainly on inherited mutations in the BRCA2 gene. This gene is already well known because harmful changes in BRCA2 can greatly increase the risk of several cancers, including breast cancer, ovarian cancer, pancreatic cancer, and prostate cancer.
For many years, doctors have used genetic testing to look for BRCA2 mutations in people with a strong family history of cancer. However, the results have often created a frustrating problem. Many patients receive findings called “variants of unknown significance.”
This means that doctors can see a genetic mutation, but they do not know whether it is harmful or harmless. As a result, patients are often left with uncertainty and difficult decisions about their health care.
Some people may worry for years without knowing whether they truly face a high cancer risk. Doctors also struggle because they cannot confidently recommend preventive treatments, surgeries, or screening plans without understanding whether the mutation is dangerous.
Now, researchers believe they may finally have a solution to this problem.
The research team used an advanced gene-editing method called CRISPR-Select to study 54 different BRCA2 variants whose effects were previously unclear. The scientists were able to test whether these mutations behaved in ways linked to cancer development.
The results showed that the new method can classify these uncertain mutations much more accurately than before. In many cases, the researchers could clearly determine whether a mutation was likely to increase cancer risk or whether it appeared harmless.
Dr. Maria Rossing, the lead researcher and a clinical professor at the University of Copenhagen, explained why this discovery is so important.
She said that if doctors know a patient carries a harmful mutation, they can take action before cancer develops. Patients may receive earlier screening, preventive surgery, or faster treatment if cancer appears later.
Early prevention is especially important for hereditary cancers because people born with harmful BRCA2 mutations may face significantly higher cancer risks throughout their lives.
Every person carries thousands of genetic variations. Most are completely harmless and never cause health problems. However, some mutations can increase the likelihood of diseases such as cancer.
Scientists have not yet fully understood the meaning of every possible mutation found in human DNA. This has left many patients in medical uncertainty after genetic testing.
Until now, patients with unknown BRCA2 variants often heard doctors say that there was not enough evidence to know whether the mutation was dangerous. This uncertainty could make it difficult for families to decide whether to undergo preventive surgery, intensive cancer screening, or other medical interventions.
The new testing method may help remove much of that uncertainty.
To perform the tests, researchers edited cells to include the specific BRCA2 mutation they wanted to study. They then exposed the cells to chemotherapy drugs and observed how the cells responded.
The scientists analyzed whether the mutation caused abnormal behavior linked to cancer development. They then compared the results with international classification standards to ensure accuracy and reliability.
One of the most important parts of the project is that the findings are being shared internationally. The researchers are updating global genetic databases with their results.
This means doctors around the world may soon be able to search for one of these previously unclear BRCA2 variants and immediately learn whether it is likely harmful or not.
The impact of this work could extend far beyond Denmark. Families in many countries may eventually receive clearer answers about inherited cancer risk and better guidance for prevention and treatment.
The study also demonstrated that the new method works well in a real hospital setting. The collaboration between researchers at the University of Copenhagen and Rigshospitalet showed that the testing approach can be successfully integrated into clinical practice.
Researchers hope the method will eventually become widely available in hospitals and genetic testing centers. If adopted broadly, it could help doctors provide more personalized and accurate care for patients with hereditary cancer risk.
Experts say the research represents another major step forward in precision medicine. Precision medicine aims to tailor medical care to each person’s individual genetic makeup rather than using the same approach for everyone.
As scientists continue learning more about cancer genetics, doctors may become better able to predict who is at highest risk and offer earlier interventions that may prevent cancer from developing at all.
For families affected by hereditary breast and ovarian cancers, this research offers new hope. More accurate genetic information could reduce fear and uncertainty while helping patients make more informed decisions about their future health.
The researchers believe their work may ultimately save lives by helping people identify dangerous mutations earlier and begin preventive care sooner.
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The research findings discussed in this article were published in the Journal of Clinical Investigation.
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