Breast cancer mortality is driven predominantly by metastasis,which affects 20-30%of patients with early-stage disease despite guideline-directed therapies.Because conventional imaging modalities currently lack sensit...Breast cancer mortality is driven predominantly by metastasis,which affects 20-30%of patients with early-stage disease despite guideline-directed therapies.Because conventional imaging modalities currently lack sensitivity to identify residual disease,molecular-level monitoring must be developed.Circulating tumor DNA(ctDNA)profiling currently enables transformative minimal residual disease(MRD)detection and can quantify tumor burden at low variant allele frequencies.This review provides a comprehensive overview of MRD in breast cancer,including its definition,detection technologies,positivity thresholds,pathophysiology,clinical applications in adjuvant and neoadjuvant settings,ongoing clinical trials,challenges,and future directions.ctDNA-defined MRD has potential as a precision tool for adaptive therapy,and might facilitate post-adjuvant interception,whereby targeted therapies are administered to eradicate micro-metastases before radiographic recurrence.Persistent challenges include MRD assay standardization,subtype-specific MRD thresholds,tumor heterogeneity,and positioning MRD as a potentially valuable tool for precision management in breast cancer.展开更多
基金supported by the National Natural Science Foundation of China(Grant No.82373113,XJ)Shenyang Breast Cancer Clinical Medical Research Center(Grant No.2020-48-3-1,ST)+1 种基金Shenyang Public Health R&D Special Project(Grant No.22-321-31-04,ST)Liaoning Revitalization Talents Program(Grant No.XLYC1907160,XJ).
文摘Breast cancer mortality is driven predominantly by metastasis,which affects 20-30%of patients with early-stage disease despite guideline-directed therapies.Because conventional imaging modalities currently lack sensitivity to identify residual disease,molecular-level monitoring must be developed.Circulating tumor DNA(ctDNA)profiling currently enables transformative minimal residual disease(MRD)detection and can quantify tumor burden at low variant allele frequencies.This review provides a comprehensive overview of MRD in breast cancer,including its definition,detection technologies,positivity thresholds,pathophysiology,clinical applications in adjuvant and neoadjuvant settings,ongoing clinical trials,challenges,and future directions.ctDNA-defined MRD has potential as a precision tool for adaptive therapy,and might facilitate post-adjuvant interception,whereby targeted therapies are administered to eradicate micro-metastases before radiographic recurrence.Persistent challenges include MRD assay standardization,subtype-specific MRD thresholds,tumor heterogeneity,and positioning MRD as a potentially valuable tool for precision management in breast cancer.