Veritas Genetics, in collaboration with the Department of Biomedicine and Prevention at the University of Rome Tor Vergata and the Tor Vergata University Hospital, has published the results of an innovative pilot study demonstrating the importance of polygenic risk scores (PRS) in identifying and managing women with a high risk of developing breast cancer.
This groundbreaking study, led by Professor Giuseppe Novelli from the University of Tor Vergata in collaboration with key members of Veritas‘ medical-scientific team (Dr. Vincenzo Cirigliano, Dr. Luis Izquierdo, Giuliana Longo, and Bibiana Palao), suggests that PRS, combined with the assessment of known pathogenic variants, can provide a more accurate risk evaluation for both carriers and non-carriers of mutations in genes such as BRCA1, BRCA2, PALB2, and ATM.
The study, published in the Journal of Personalized Medicine, evaluated women with a family history of breast cancer, demonstrating that PRS significantly improves the accuracy of individual risk prediction. This is particularly relevant for women who are non-carriers of pathogenic variants in susceptibility genes. For carriers of mutations in genes like BRCA1 and BRCA2, PRS offers a complementary approach that helps refine personalized management and prevention strategies.
PRS has the potential to transform how cancer risk is assessed and managed in patients with a family history of the disease. Dr. Izquierdo, added: „Polygenic risk scoring not only provides a deeper evaluation of genetic risk but also redefines how we understand cancer susceptibility in families with a history of the disease. This tool is key to the future of personalized medicine and the proactive management of complex conditions like breast cancer.“
Entdecke mehr von LabNews
Melde dich für ein Abonnement an, um die neuesten Beiträge per E-Mail zu erhalten.
