ArticleNPJ digital medicine2026
Deep learning analysis of breast cancer histology predicts ATM pathogenic variant carrier status.
Article in NPJ digital medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We performed deep learning analysis of histopathological whole-slide (full-face) images (WSI) to predict ATM pathogenic or likely pathogenic variant (PV/LPV) status of women with breast cancer and identify specific histological patterns of their tumor.In the discovery set composed of tumors from PV/LPV carriers (58 WSI) and noncarriers (129 WSI), our deep learning model predicted ATM status of patients with an area under the curve of 0.90 [95%CI: 0.85-0.95] and a balanced accuracy of 0.80 [95%CI: 0.72-0.88]. In the replication set (29 WSI from carriers and 22 WSI from noncarriers), corresponding results were 0.85 [95%CI: 0.70-1.00] and 0.67 [95%CI: 0.51-0.83]. We found that tumors developed by ATM PV/LPV carriers often displayed discohesive neoplastic cells as observed in invasive lobular carcinomas, and dense lymphocytic infiltrate reflecting an immune-enriched microenvironment.Recognizing these tumors at the time of diagnosis is a critical first step toward precision medicine in affected women and precision prevention in family members.
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