4.6 Review

Clinical application of circulating tumor DNA in breast cancer

Journal

JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
Volume 147, Issue 5, Pages 1431-1442

Publisher

SPRINGER
DOI: 10.1007/s00432-021-03588-5

Keywords

Liquid biopsy; Breast cancer; Circulating tumor DNA; ESR1 mutations; PIK3CA mutations; HER2 amplification

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ctDNA has diverse applications in breast cancer management, including real-time monitoring of tumor response, detection of drug-resistant clones, and assessment of dynamic variations in tumor mutational landscape.
Background The recent advancement in massively parallel sequencing technologies has empowered liquid biopsies, in particular circulating tumor DNA (ctDNA) analysis, to be the new paradigm in personalized cancer management. Plasma ctDNA detection overcomes the current limitations in tumor tissue procurement and serves as a convenient and non-invasive method to capture tumor heterogeneity and genetic evolution along patients' cancer journey. Summary of findings In breast cancer, the current clinical application of ctDNA includes real-time monitoring of tumor response, detection of drug-resistant clones, assessing dynamic variations in tumor mutational landscape, identifying actionable mutations, detecting minimal residual disease and screening of early tumor. Purpose This review aims to summarize the current clinical evidence of ctDNA application in the management of breast cancer.

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