Artificial Intelligence-Driven Mammography-Based Future Breast Cancer Risk Prediction: A Systematic Review.

PURPOSE: To summarize the literature regarding the performance of mammography-image based artificial intelligence (AI) algorithms, with and without additional clinical data, for future breast cancer risk prediction. MATERIALS AND METHODS: A systematic literature review was performed using six databases (medRixiv, bioRxiv, Embase, Engineer Village, IEEE Xplore, and PubMed) from 2012 through September 30, 2022. Studies were included if they used real-world screening mammography examinations to validate AI algorithms for future risk prediction based on images alone or in combination with clinical risk factors. The quality of studies was assessed, and predictive accuracy was recorded as the area under the receiver operating characteristic curve (AUC). RESULTS: Sixteen studies met inclusion and exclusion criteria, of which 14 studies provided AUC values. The median AUC performance of AI image-only models was 0.72 (range 0.62-0.90) compared with 0.61 for breast density or clinical risk factor-based tools (range 0.54-0.69). Of the seven studies that compared AI image-only performance directly to combined image + clinical risk factor performance, six demonstrated no significant improvement, and one study demonstrated increased improvement. CONCLUSIONS: Early efforts for predicting future breast cancer risk based on mammography images alone demonstrate comparable or better accuracy to traditional risk tools with little or no improvement when adding clinical risk factor data. Transitioning from clinical risk factor-based to AI image-based risk models may lead to more accurate, personalized risk-based screening approaches.

Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells.

A novel myosin heavy chain 7 mutation (E848G) identified in a familial cardiomyopathy was studied in patient-specific induced pluripotent stem cell-derived cardiomyocytes. The cardiomyopathic human induced pluripotent stem cell-derived cardiomyocytes exhibited reduced contractile function as single cells and engineered heart tissues, and genome-edited isogenic cells confirmed the pathogenic nature of the E848G mutation. Reduced contractility may result from impaired interaction between myosin heavy chain 7 and cardiac myosin binding protein C.