Leveraging Large, Clinically-Based Datasets for Cancer Gene Classification

This white paper discusses the role of Ambry's Classifi program in classifying cancer predisposition genes using large, clinically-based datasets. It highlights two case studies, RPS20 and CTNNA1, demonstrating how emerging evidence can transform gene classification and improve patient outcomes. The paper emphasizes the importance of ongoing evidence assessment and the impact of comprehensive clinical databases in refining gene-disease validity and variant classification.