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INTERNATIONAL CONGRESS OF

CancerGenetics

• Liquid Biopsy in Cancer Detection: Advances, Applications, and Future Perspectives

• Negar khaki ,^1,* Kiana hajavi,²
  1. Medical university and Azad university
  2. Azad university
  
  
  
• Introduction: Cancer remains one of the leading causes of mortality worldwide, with approximately 10 million deaths annually. Early detection significantly improves treatment outcomes and survival rates (1). Traditional diagnostic methods, such as tissue biopsy, imaging, and endoscopy, are invasive and often limited in sensitivity or specificity, particularly for early-stage cancers (2). Liquid biopsy, a minimally invasive method that analyzes circulating tumor-derived components such as circulating tumor DNA (ctDNA), exosomes, and circulating tumor cells (CTCs), has emerged as a transformative tool in oncology (3). By providing real-time insights into tumor genetics and heterogeneity, liquid biopsy holds great promise for early detection, treatment monitoring, and resistance evaluation (4,5).
• Methods: Recent advances in sequencing technologies have enabled the detection of tumor-specific alterations in plasma-derived cell-free DNA (cfDNA). Technologies such as digital PCR, next-generation sequencing (NGS), and methylation profiling allow for sensitive detection of mutations, gene fusions, and epigenetic changes associated with malignancies (6,7). Multi-cancer early detection (MCED) platforms such as the Galleri® test use machine learning and targeted methylation signatures to identify multiple cancer types from a single blood draw (8). These approaches are being validated in large clinical trials and show promising specificity and sensitivity for both common and rare cancers (6,8).
• Results: Studies have demonstrated that ctDNA analysis can detect cancer months before radiologic evidence appears. In a pivotal study, Bettegowda et al. detected ctDNA in over 70% of patients with various cancer types (2). The Galleri® test identified more than 50 types of cancer with a specificity of over 99.5%, and a positive predictive value (PPV) significantly higher than conventional screening approaches (8). Additionally, fragmentation patterns of cfDNA were shown to correlate with tumor burden and type, enhancing detection accuracy (9).
• Conclusion: Liquid biopsy represents a paradigm shift in oncology, offering a non-invasive, dynamic, and highly informative approach to cancer detection and management. With the continuous refinement of genomic and epigenomic tools, it is expected that liquid biopsy will become a cornerstone in personalized cancer care. However, challenges remain, including standardization, cost, and clinical validation across diverse populations. Future research should focus on integrating multi-omics data, expanding accessibility, and evaluating its utility in population-wide screening programs (1,
• Keywords: Liquid biopsy; circulating tumor DNA (ctDNA); cancer detection; early diagnosis; cell-free DNA (cfDN