Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning

Despite great progress in the identifications of genes associated with breast cancer, there is still limited use of such knowledge in breast cancer (BC) screening, with nearly one-third of BC patients still missing the early detection phase. We have developed BRECARDA, an AI-based framework that incorporates genetic information and clinical risk factors to predict breast cancer risk. BRECARDA achieved good performance when evaluated with a real-world clinical dataset. This BRECARDA framework can be broadly applied to the general population, making risk assessment more accessible. It has the potential to advance early detection. (By Dr. Lynn Rose Tao, https://jmg.bmj.com/content/early/2023/04/12/jmg-2022-108582 )

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