The study, conducted in collaboration with the Department of Biomedicine and Prevention at the University of Rome Tor Vergata and Tor Vergata University Hospital, underscores the relevance of polygenic risk scores (PRS) in risk stratification for patients with a genetic predisposition to breast cancer.

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.

Key Findings of the Study

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.

According to Dr. Izquierdo, Chief Medical Officer at Veritas, “This study reaffirms the clinical value of genomic tools in personalizing preventive medicine. The use of PRS, along with traditional genetic evaluation, allows healthcare professionals to offer more precise and tailored care to the individual needs of each patient, ultimately improving long-term outcomes.”

An Essential Tool for Personalized Medicine

PRS has the potential to transform how cancer risk is assessed and managed in patients with a family history of the disease. Dr. Vincenzo Cirigliano, Chief Technical Officer at Veritas, 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.”

About Veritas Genetics

Veritas Genetics leads the implementation of advanced genomic solutions, focusing on preventive and personalized medicine. Through partnerships with top-tier academic institutions, Veritas continues to drive innovation aimed at improving health and well-being.

For more information: https://www.mdpi.com/2975338