Mammogram-based deep learning models have improved breast cancer risk prediction, but the learned imaging patterns remain underexplored. Existing interpretability methods rely on single-image saliency maps, failing to identify recurring mammographic phenotypes across large patient cohorts. By clustering patch embeddings from a pre-trained model, Mirai, we isolate recurring phenotypes linked to 5-year cancer risk. Analyses show risk-increasing phenotypes capture complex structures (e.g., dense tissue, microcalcifications) and shortcut artifacts (e.g., clips). These phenotypes correlate strongly with older age and higher BI-RADS density. Our framework connects tissue patterns to AI risk scores, revealing clinical signatures and potential latent model confounders.
We externally validated three deep learning models (DenseNet121, ViT-B/32, and ResNet50) for predicting mammographic breast density from breast ultrasound exams on an independent cohort. The external validation set comprised 2,000 ultrasound exams, including 500 cancer cases defined by an initial negative exam (BI-RADS 1 or 2) followed by a cancer diagnosis within 6 months to 10 years, and 1,500 negative controls matched by manufacturer and study year. Performance was measured using patient-level AUROC across four density categories: A (fatty), B (scattered), C (heterogeneous), and D (extremely dense). As a downstream assessment, we also evaluated 10-year risk prediction by incorporating age and AI-derived density into the Tyrer-Cuzick model and comparing performance against a reference model using age and mammography-reported density. All three models performed best in extremely dense breasts (AUROC 0.868-0.899), with strong performance in fatty (0.814-0.838) and scattered density (0.764-0.799), and lower performance in heterogeneously dense breasts (0.699-0.729). DenseNet121 achieved the highest overall performance (micro-averaged AUROC 0.885), and performance across categories was comparable between internal and external testing. For risk modeling, age combined with AI-derived density yielded a lower AUROC than age combined with mammography-reported density (0.541 vs. 0.570; p = 0.23), with no statistically significant difference. These findings indicate that deep learning models generalize well to external data with different racial composition for breast density assessment. While performance is strongest in extremely dense breasts, heterogeneously dense remains more challenging, highlighting the need for targeted optimization.
Accurate breast cancer risk prediction from screening mammography is critical for enabling personalized screening intervals and early detection. Recent deep learning methods have shown the value of longitudinal data and explicit temporal alignment. However, existing approaches either perform explicit alignment using a single mammographic view or model multiple views without explicit longitudinal alignment, limiting their ability to exploit the complementary spatial-temporal information used in clinical practice. To address this gap, we propose LMV-Net, a longitudinal multi-view breast cancer risk prediction model that jointly analyzes anatomically complementary CC and MLO views within an explicitly aligned longitudinal framework. We evaluate our approach on the public EMBED and CSAW-CC datasets, comparing it to state-of-the-art breast cancer risk prediction methods. Our model consistently outperforms existing approaches in overall risk prediction performance and across different breast density and cancer subgroups. Importantly, these improvements highlight the potential of longitudinal multi-view modeling to enhance risk stratification, paving the way for future work on personalized screening, earlier identification of high-risk patients, and more efficient screening resource allocation. The code is available at https://github.com/sot176/LMV-Net.
Mammography is an essential tool for breast cancer detection, with millions of examinations conducted annually. However, publicly available high-quality mammography datasets for AI development remain limited in both scale and annotation richness, particularly regarding pathological subtype coverage and structured diagnostic reasoning annotations. In this paper, we present MammoExpert, the first mammography dataset with Chain-of-Thought reasoning annotations across three diagnostic phases: (i) primal observation, (ii) factual assessment, and (iii) diagnostic synthesis. Comprising 2,379 mammography images covering 67 WHO-classified histopathology subtypes, each exam provides 42 radiographic features annotated by nine senior radiologists. We evaluate its performance on the breast lesion classification task, demonstrating superior accuracy and reasonability compared to existing classification models. Combining public dataset CBIS-DDSM with MammoExpert yields 7.1% classification accuracy improvement, while the training model to learn CoT reasoning achieves another 4% gain on the MammoExpert test set. Similar improvements are observed on INBreast and Vindr datasets, where the full approach yields accuracy gains of 6.9% and 6.7%, respectively. MammoExpert can serve as a benchmark for interpretable breast lesion diagnosis through explicit CoT reasoning.