Background: Breast cancer is the most common malignancy among women worldwide and a growing public-health challenge in Southeast Asia. Mammography has reduced sensitivity in many Asian populations because of a high prevalence of dense breast tissue and an earlier peak age of onset. Circulating cell-free DNA (cfDNA) and circulating tumour DNA (ctDNA) have emerged as non-invasive biomarkers for detection, monitoring and precision management. Objective: To synthesise current evidence on cfDNA applications across the breast-cancer care continuum, and to appraise opportunities and implementation challenges in Southeast Asia, while distinguishing analytical validity, diagnostic accuracy and clinical utility. Methods: We conducted a non-systematic narrative review of English-language literature (2010-2025) from PubMed/MEDLINE, Scopus, Web of Science and Google Scholar, supplemented by regional reports, using terms combining cfDNA/ctDNA/liquid biopsy with breast cancer and Southeast Asian country names. Evidence was organised using the analytical validity-clinical validity-clinical utility framework, and breast-specific findings were separated from multi-cancer assay results. Results: Multi-omics cfDNA assays integrating genomic, epigenetic and fragmentomic features show high specificity and promising, stage-dependent sensitivity for early detection; several key performance estimates, however, derive from multi-cancer rather than breast-specific cohorts. ctDNA supports response monitoring, minimal-residual-disease detection and resistance identification, but most regional evidence is prognostic rather than interventional, and outcome benefit from acting earlier remains largely unproven. Regional evidence is concentrated in Vietnam and Thailand. Clonal haematopoiesis, low ctDNA shedding in early disease and pre-analytical variation remain important error sources. Conclusion: cfDNA-based liquid biopsy is a promising adjunct that should currently complement, not replace, established breast-imaging pathways. Realising its potential in Southeast Asia will require locally generated evidence and coordinated action on cost, infrastructure, regulation and equity.
Cite this paper
 , S. , Yeaman, S. S. , Shamia, J. , Uddin, M. M. and Anmol, T. S. (2026). The Role of cfDNA in Early Diagnosis and Treatment Management of Breast Cancer: Implementation Challenges and Opportunities in Southeast Asia. Open Access Library Journal, 13, e15836. doi: http://dx.doi.org/10.4236/oalib.1115836.
Panagopoulou, M., Esteller, M. and Chatzaki, E. (2021) Circulating Cell-Free DNA in Breast Cancer: Searching for Hidden Information towards Precision Medicine. <i>Cancers</i>, 13, Article No. 728. <br>https://doi.org/10.3390/cancers13040728
Cybulla, E. and Stover, D.G. (2025) Circulating DNA Tumor Fraction as a Biomarker for Advanced Breast Cancer. <i>Frontiers in Oncology</i>, 15, Article 1655415. <br>https://doi.org/10.3389/fonc.2025.1655415
Chotai, N., Renganathan, R., Uematsu, T., Wang, J., Zhu, Q., Rahmat, K., <i>et al</i>. (2025) Breast Cancer Screening in Asian Countries: Epidemiology, Screening Practices, Outcomes, Challenges, and Future Directions. <i>Korean Journal of Radiology</i>, 26, 743-758. <br>https://doi.org/10.3348/kjr.2025.0338
Uematsu, T., Izumori, A. and Moon, W.K. (2023) Overcoming the Limitations of Screening Mammography in Japan and Korea: A Paradigm Shift to Personalized Breast Cancer Screening Based on Ultrasonography. <i>Ultrasonography</i>, 42, 508-517. <br>https://doi.org/10.14366/usg.23047
Barbirou, M., Miller, A.A., Gafni, E., Mezlini, A., Zidi, A., Boley, N., <i>et al</i>. (2022) Evaluation of cfDNA as an Early Detection Assay for Dense Tissue Breast Cancer. <i>Scientific Reports</i>, 12, Article No. 8458. <br>https://doi.org/10.1038/s41598-022-12457-1
Gene Solutions (2025) Gene Solutions Leads the Way in Cancer Early Detection with Asia’s First Clinically Validated Multi-Cancer Blood Test. PR Newswire.
Gene Solutions (2026) FDA Breakthrough Device Designation Marks Major Milestone for Gene Solutions’ SPOT-MAS 10 Multi-Cancer Screening Test. <br>https://genesolutions.com/news/fda-breakthrough-device-designation-marks-major-milestone-for-gene-solutions-spot-mas-10-multi-cancer-screening-test
Yang, L., An, M., Song, H., Zhang, X., Wang, M., Yang, L., <i>et al</i>. (2025) Multidimensional Cell-Free DNA Fragmentomics Enables Early Detection of Breast Cancer. <i>Breast Cancer Research</i>, 28, Article No. 6. <br>https://doi.org/10.1186/s13058-025-02190-8
Cheng, N., Skead, K., Singhawansa, A., Ouellette, T.W., Elliott, M., Cescon, D.W., <i>et</i> <i>al</i>. (2023) Pre-Diagnosis Plasma Cell-Free DNA Methylome Profiling up to Seven Years Prior to Clinical Detection Reveals Early Signatures of Breast Cancer. medRxiv.
Keller, L., Belloum, Y., Wikman, H. and Pantel, K. (2021) Clinical Relevance of Blood-Based ctDNA Analysis: Mutation Detection and Beyond. <i>British Journal of Cancer</i>, 124, 345-358. <br>https://doi.org/10.1038/s41416-020-01047-5
Wang, H., Liu, Z., Xie, J., Wang, Z., Zhou, X., Fang, Y., <i>et al</i>. (2017) Quantitation of Cell-Free DNA in Blood Is a Potential Screening and Diagnostic Maker of Breast Cancer: A Meta-Analysis. <i>Oncotarget</i>, 8, 102336-102345. <br>https://doi.org/10.18632/oncotarget.21827
Yang, X., Liu, Q., Guo, Z., Yang, X., Li, K., Han, B., <i>et al</i>. (2024) Promoter Profiles in Plasma cfDNA Exhibits a Potential Utility of Predicting the Efficacy of Neoadjuvant Chemotherapy in Breast Cancer Patients. <i>Breast Cancer Research</i>, 26, Article No. 112. <br>https://doi.org/10.1186/s13058-024-01860-3
Kim, S.T., Banks, K.C., Lee, S., Kim, K., Park, J.O., Park, S.H., <i>et al</i>. (2017) Prospective Feasibility Study for Using Cell-Free Circulating Tumor DNA-Guided Therapy in Refractory Metastatic Solid Cancers: An Interim Analysis. <i>JCO Precision Oncology</i>, 1, 1-15. <br>https://doi.org/10.1200/po.16.00059
Co, L.M.B., Dee, E.C., Eala, M.A.B., Ang, S.D. and Ang, C.D.U. (2022) Access to Surgical Treatment for Breast Cancer in the Philippines. <i>Annals of Surgical Oncology</i>, 29, 6729-6730. <br>https://doi.org/10.1245/s10434-022-12311-8
Higgins, I., Kleinig, P., Le, D.T., Londema, J., Shephard, B., Siow, E.M.Q., <i>et al</i>. (2025) Facilitators and Barriers to Cancer Screening Participation across Southeast Asia: A Scoping Review. <i>Psycho</i>-<i>Oncology</i>, 34, e70139. <br>https://doi.org/10.1002/pon.70139
Polaris Market Research (2024) Breast Cancer Liquid Biopsy Market Size, Industry Demand, 2025-2034. <br>https://www.polarismarketresearch.com/industry-analysis/breast-cancer-liquid-biopsy-market
TBRC Business Research Pvt Ltd. (2024) Cell Free DNA (cfDNA) Testing Market Analysis with Opportunity Segments for 2024-2033. <br>https://www.einpresswire.com/article/730606085/cell-free-dna-cfdna-testing-market-analysis-with-opportunity-segments-for-2024-2033
Simancas-Racines, D., Román-Galeano, N.M., Vásquez, J.P., Jima Gavilanes, D., Vijayan, R. and Reytor-González, C. (2025) Liquid Biopsy and Multi-Omic Biomarkers in Breast Cancer: Innovations in Early Detection, Therapy Guidance, and Disease Monitoring. <i>Biomedicines</i>, 13, Article 3073. <br>https://doi.org/10.3390/biomedicines13123073
Wee, L.E., Koh, G.C.H., Chin, R.T., Yeo, W.X., Seow, B. and Chua, D. (2012) Socioeconomic Factors Affecting Colorectal, Breast and Cervical Cancer Screening in an Asian Urban Low-Income Setting at Baseline and Post-Intervention. <i>Preventive Medicine</i>, 55, 61-67. <br>https://doi.org/10.1016/j.ypmed.2012.04.011
Pushpanjali, P., Keshari, J.R., Prakash, P., Kumar, M., Mandal, M. and Kumari, R. (2023) Correlation between Circulating Cell-Free DNA Levels and Breast Cancer Subtypes: A Prospective Observational Study. <i>Cureus</i>, 15, e42250. <br>https://doi.org/10.7759/cureus.42247