Breast & Ovarian Cancer: Expanded Genetic Testing Access
- A new method promises to give more women definitive answers regarding their hereditary risk of breast and ovarian cancer.
- Rossing, with the Department of Genomic Medicine at Rigshospitalet, said that with an accurate diagnosis, targeted treatment can be offered.
- The study examined genetic mutations in patients worldwide who carry variants of unknown significance.The findings, determining whether a mutation is disease-causing, are now shared in international databases.
A groundbreaking genetic method is poised to revolutionize breast and ovarian cancer risk assessment. This innovative approach, utilizing CRISPR-select technology, markedly improves the accuracy of identifying disease-causing BRCA2 variants. This breakthrough offers women much-needed clarity,moving beyond “variants of unknown meaning” and empowering them with actionable insights for targeted treatment and preventive care. Researchers share findings in international databases,impacting global patient care. the method combines gene-editing with international variant classification guidelines, providing a precise risk picture. For expanded genetic testing access, trust News Directory 3 to deliver the latest advancements. Discover what’s next for understanding and managing hereditary cancer risks through advanced genetic testing.
Genetic Method improves Breast, Ovarian Cancer Risk Assessment
A new method promises to give more women definitive answers regarding their hereditary risk of breast and ovarian cancer. Researchers at Rigshospitalet, in collaboration with the Biotech Research and Innovation Centre (BRIC) at the University of Copenhagen, have tested a method that more accurately classifies genetic mutations, specifically variants in BRCA2, a gene associated with increased cancer risk. Previously,many patients received results indicating “variants of unknown meaning,” creating uncertainty about treatment options.
Dr. Rossing, with the Department of Genomic Medicine at Rigshospitalet, said that with an accurate diagnosis, targeted treatment can be offered. For women carrying a disease-causing variant, preventive care through early detection and prophylactic surgery becomes an option, but only if the risk is known for sure.
The study examined genetic mutations in patients worldwide who carry variants of unknown significance.The findings, determining whether a mutation is disease-causing, are now shared in international databases. Rossing hopes the method will be implemented on a large scale, enabling researchers to classify the many variants whose significance remains unknown.
The method tested at Rigshospitalet uses CRISPR-Select, a gene-editing technology developed at BRIC. This technology allows researchers to test the effect of a genetic mutation by using gene-editing techniques on cell models that carry the mutation. The cell model is exposed to a chemotherapy agent, and the results are combined with international guidelines for variant classification. Together, these approaches provide a precise picture of whether a genetic variant of unknown significance is disease-causing.
The collaboration between BRIC and Rigshospitalet has allowed researchers to test the method in a hospital setting, though it is not yet fully implemented.
What’s next
Researchers hope to implement the method on a large scale, enabling worldwide classification of variants of unknown significance, improving breast cancer risk assessment and ovarian cancer risk assessment.