Camilla Jessen
A new method from Copenhagen scientists promises answers where uncertainty once ruled.
A groundbreaking method developed in Denmark could help more women find out if they have inherited a higher risk of breast and ovarian cancer—before the disease even appears.
Researchers from the University of Copenhagen and Rigshospitalet have created a gene analysis technique that can more precisely determine whether certain mutations in the BRCA2 gene are harmful.
These types of mutations are known to increase the risk of several cancers, especially breast, ovarian, pancreatic, and prostate cancers.
A Leap Forward for Early Diagnosis
Many people carry mutations in their genes, most of which are harmless.
But the challenge for doctors has been understanding what to do when they find a mutation that isn’t clearly harmful or safe—a so-called “variant of unknown significance.”
“Until now, we could only tell patients they had a mutation of uncertain importance. That didn’t help doctors decide on a treatment,” explained Maria Rossing, chief physician at Rigshospitalet and a researcher at the University of Copenhagen, in a press release via Ritzau.
With the new method, that is changing.
The research team was able to analyze 54 previously unclear BRCA2 variants and determine whether they were disease-causing or not.
How the Method Works
The new method, based on CRISPR-Select technology developed at the University of Copenhagen’s Biotech Research and Innovation Center (BRIC), uses gene editing and lab tests to evaluate mutations.
For example, researchers expose cells with specific mutations to chemotherapy and observe how they react.
This gives a clearer picture of whether the mutation increases the risk of disease. The results are then interpreted using the latest international guidelines.
“This allows us to offer preventive treatments, like early screenings or surgeries, to patients who are at risk,” said Rossing. “That’s not possible when we don’t know if the mutation is harmful.”
Tested in Danish Hospitals—With Global Impact
Although the method is still in the testing phase, it has already been used at Rigshospitalet in Copenhagen. Researchers believe it has the potential to save lives worldwide.
The findings from the BRCA2 variants have been shared in international databases, making them available to doctors and researchers globally. This means that when similar cases appear elsewhere, they can benefit from the Danish research.
“We hope this becomes a global tool to understand more of the unknown variants and provide better care for patients everywhere,” Rossing said.