Personalized mutation tracking in circulating-tumor DNA predicts recurrence in patients with high-risk early breast cancer.

ABSTRACT: The clinical utilization of circulating tumor DNA (ctDNA) in breast cancer (BC) management is not well-defined. In this prospective study, 168 patients with early-stage BC were recruited, serial blood samples were collected before and after surgery. Tumor-informed ctDNA testing was performed, which sequenced tumors for 95 genes followed by bespoke mPCR to track 1-9 mutations in the plasma. ctDNA was detected before surgery in 14.6%, 40.0%, 83.8%, and 80.0% of HR+ low-risk, HR+ high-risk, HR-HER2+ and HR-HER2- patients, respectively. Pre-operative ctDNA positivity was significantly associated with decreased disease-free survival (DFS) (adjusted HR = 3.09, 95% CI 2.65-80.0, p = 0.001). After a median 26.6-month follow-up, 11 patients relapsed, and ctDNA at landmark time point 2-4 weeks after

SUBMITTER: Nguyen ST 

PROVIDER: S-EPMC12181414 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature