Researchers from the University of Copenhagen and Rigshospitalet have developed and tested a new method to accurately identify hereditary genetic mutations linked to breast and ovarian cancer.
Researchers from the University of Copenhagen and Rigshospitalet have unveiled a gene-editing method that promises to dramatically improve the diagnosis and treatment of hereditary breast and ovarian cancer.
This advancement, published in The Journal of Clinical Investigation, could have far-reaching implications for families with a history of these devastating diseases.
“If we know a patient has a pathogenic mutation, we can intervene before the cancer has a chance to develop. For those already affected by the disease, we can treat them faster and more precisely. In the long run, this will save lives,” corresponding author Maria Rossing, a clinical research associate professor in the Department of Clinical Medicine at the University of Copenhagen and the chief physician at Rigshospitalet, said in a news release.
Genetic mutations are inherent to our DNA, and while many are benign, some pose significant health risks.
Traditional methods have struggled to clarify the significance of certain genetic variants, leaving both patients and clinicians in a state of uncertainty.
“It’s uncharted territory. Until now, we’ve only been able to inform patients that they have a mutation of unknown significance, and treating physicians haven’t been able to use that information in clinical decision-making,” added Rossing.
This breakthrough employs a sophisticated method developed at the Biotech Research and Innovation Center (BRIC) at the University of Copenhagen. The researchers tested 54 BRCA2 gene variants, which are linked to several cancers including breast, ovarian, pancreatic and prostate cancers.
Accurate classification of these variants can now empower clinicians to offer more precise and preventative treatment options.
“When we can provide an accurate diagnosis, we can offer targeted treatment. For women who carry a disease-causing variant, we can offer preventive care through early detection and prophylactic surgery. But we can’t do that unless we know for sure whether a mutation leads to disease,” Rossing added.
The study underscores the potential of this method to transform global clinical practices. Currently, many patients worldwide receive inconclusive results when tested for BRCA2 mutations. This research offers a new level of clarity.
“When researchers or doctors anywhere in the world search for these 54 variants in the databases, they’ll see our classification. This has implications far beyond Danish patients,” added Rossing.
The method leverages CRISPR-Select technology, an innovative gene-editing technique refined at BRIC. By creating cell models with specific mutations and exposing them to particular chemotherapy agents, researchers can observe the precise effects of these genetic alterations.
Though not yet fully implemented, this method’s testing in a hospital setting marks a significant stride forward. The collaboration between BRIC and Rigshospitalet showcases how cutting-edge research and clinical practice can intersect to drive medical advancements.
Source: University of Copenhagen