Advancements in Genetic Testing Enable More Women to Understand Hereditary Cancer Risks

Recent developments in genetic testing methods are offering new hope for women at risk of hereditary breast and ovarian cancer. Researchers from the University of Copenhagen and Rigshospitalet have introduced a novel technique to accurately identify whether individuals carry genetic mutations that can significantly increase their risk for these cancers. This breakthrough allows for earlier, targeted intervention, potentially saving lives. Traditionally, many women undergo genetic testing for mutations like BRCA2, but results often revealed variants of unknown significance, providing limited clinical guidance. The new method utilizes CRISPR-Select technology to analyze specific gene variants, determining whether they are benign or pathogenic with high precision. By focusing on mutations such as those in the BRCA2 gene—linked to breast, ovarian, pancreatic, and prostate cancers—this approach helps refine treatment options, including preventive measures like early detection and prophylactic surgery. The research team successfully tested this methodology on 54 BRCA2 variants, integrating international databases to classify these mutations more reliably. The collaboration between BRIC at the University of Copenhagen and clinical partners aims to expand the implementation of this technology worldwide, enhancing personalized medicine and improving patient outcomes. Ultimately, widespread adoption of this method could lead to better risk assessment, more informed medical decisions, and increased lives saved through early intervention.