New Genetic Method Enhances Risk Assessment for Breast and Ovarian Cancer

In a significant advancement for women's health, researchers at the University of Copenhagen and Rigshospitalet have developed a novel genetic method to assess hereditary risks of breast and ovarian cancer. This breakthrough, reported in the Journal of Clinical Investigation on June 17, 2025, could transform how healthcare professionals diagnose and manage patients with familial cancer histories.

The innovative approach, termed CRISPR-Select, enables the precise classification of genetic mutations, specifically targeting the BRCA2 gene, which is crucial in understanding susceptibility to various cancers. According to Dr. Maria Rossing, Clinical Research Associate Professor at the University of Copenhagen and Chief Physician at Rigshospitalet, “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.”

Historically, many patients have received results indicating a “variant of unknown significance,” leaving both patients and physicians uncertain about the implications for treatment. The new method addresses this uncertainty by accurately determining whether specific mutations are disease-causing, which is essential for effective clinical decision-making.

The researchers analyzed 54 BRCA2 variants and established a classification system that integrates gene-editing techniques with international guidelines for mutation assessment. This comprehensive analysis not only aids in individual patient care but also enhances global databases that share mutation classifications, thereby benefiting patients worldwide. Dr. Rossing emphasizes, “When researchers or doctors anywhere in the world search for these 54 variants, they'll see our classification. This has implications far beyond Danish patients.”

The method was rigorously tested at Rigshospitalet, collaborating with the Biotech Research and Innovation Center (BRIC) at the University of Copenhagen. The implications of this research are profound, as accurate diagnoses will enable targeted treatments, potentially including early detection strategies and prophylactic surgeries for women identified as carrying disease-causing variants.

The CRISPR-Select technology not only represents a significant step forward in genetic research but also holds the promise of saving lives through improved healthcare outcomes. Experts believe that widespread implementation of this method could lead to a paradigm shift in how hereditary cancers are understood and treated.

In conclusion, this breakthrough in genetic testing provides hope not only for patients and families affected by breast and ovarian cancer but also sets a precedent for the future of precision medicine. As this research continues to unfold, the implications for global health and cancer management are poised to be transformative, paving the way for more informed and effective healthcare strategies in oncology.

As the scientific community and healthcare providers look forward to integrating this method into clinical practice, the journey towards understanding the complexities of genetic variants continues, with the ultimate goal of enhancing patient care and outcomes across the globe.