Genomic profiling of true live single circulating tumor cells (CTCs) identified significant enrichment of PIK3CA mutations and homologous recombination repair (HRR) pathway alterations in breast cancer patients.
The study demonstrates the ability of single-cell CTC genomics to detect clinically actionable mutations that may influence targeted therapy decisions and precision oncology strategies.
Single-cell sequencing of circulating tumor cells revealed substantial intra-patient tumor heterogeneity, highlighting genetic diversity among tumor cell populations that may contribute to therapy resistance.
Many of these molecular alterations were not fully captured by conventional bulk tumor tissue sequencing, emphasizing the advantage of single-cell liquid biopsy approaches.
Detection of PIK3CA mutations through CTC analysis may inform the use of targeted therapies such as PI3K pathway inhibitors in appropriate patient populations.
Identification of HRR pathway alterations provides potential insights into DNA damage response deficiencies, which may guide treatment strategies involving PARP inhibitors or other DNA repair–targeting therapies.
High-resolution CTC-based single-cell genomics enables better understanding of tumor evolution, clonal diversity, and metastatic potential in breast cancer.
Overall, liquid biopsy–driven single-cell molecular profiling offers a powerful non-invasive approach to support precision oncology, biomarker discovery, and personalized treatment planning in breast cancer. Read Abstract