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Updated: Sep 15, 2025
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
Liquid biopsy in breast cancer: promises and challenges
Sotiris Loizidis1, Maria-Alexandra Stanciu2,3, Michail Ignatiadis2,3
1Department of Medical Oncology, Bank of Cyprus Oncology Center, Nicosia, Cyprus.
Purpose Of Review:
This review aims to provide the latest updates regarding circulating tumor DNA (ctDNA) applications in breast cancer. We discuss the current indications and recent research efforts including important ongoing trials.
Recent Findings:
In the metastatic setting, ctDNA has an established role for identifying druggable mutations (e.g. PIK3CA, ESR1, etc.). Various ctDNA assays used in randomized trials have been approved by regulatory authorities as companion diagnostic devices. Beyond precision medicine, emerging evidence indicates that ctDNA could be used for disease monitoring and detecting acquired resistance mechanisms. In the early setting, two types of ctDNA detection assays can be used: tumor-agnostic and tumor-informed, both having pros and cons. The clinical utility of ctDNA as a surveillance tool for patients with early breast cancer after treatment with curative intent is under investigation. Moreover, many research groups have demonstrated the potential role of ctDNA as a biomarker for assessing response to neoadjuvant systemic treatment and modification of therapeutic plan.
Summary:
CtDNA is currently used in metastatic breast cancer for treatment selection, and its clinical utility in early breast cancer is prospectively evaluated.
Insights
Circulating tumor DNA (ctDNA) is vital for treatment selection in metastatic breast cancer. Its role in early breast cancer detection and monitoring is under active investigation, showing promising results.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Circulating tumor DNA (ctDNA) analysis is revolutionizing cancer care.
- Breast cancer management benefits from advancements in molecular diagnostics.
Purpose of the Study:
- To review the latest applications of ctDNA in breast cancer.
- To discuss current indications and ongoing research for ctDNA in breast cancer.
Main Methods:
- Literature review of recent studies and clinical trials.
- Analysis of ctDNA assay performance and clinical utility.
Main Results:
- ctDNA identifies actionable mutations (e.g., PIK3CA, ESR1) in metastatic breast cancer.
- ctDNA assays are approved as companion diagnostics.
- Emerging evidence supports ctDNA for disease monitoring and resistance detection.
- Both tumor-agnostic and tumor-informed ctDNA assays are used in early breast cancer.
- ctDNA shows potential for assessing neoadjuvant treatment response.
Conclusions:
- ctDNA is established for treatment selection in metastatic breast cancer.
- Clinical utility of ctDNA in early breast cancer is under prospective evaluation.
