Blood-based cfDNA mutation profiling predicts malignancy in BI-RADS 4 breast nodules

Combining cfDNA tumor mutation burden and gene mutation score with age and BI-RADS classification yielded an AUC of 0.923, 88.1% sensitivity, 89.1% specificity for predicting malignancy in 212 patients with BI-RADS 4 breast nodules.

• In multivariable analysis, age (OR 1.058), BI-RADS classification (OR 2.874), TMB (OR 4.326), and GMS (OR 0.178) independently predicted malignancy.
• The retrospective study used targeted NGS of 49 breast cancer genes on preoperative peripheral blood cfDNA from 212 patients.

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