Circulating tumor DNA (ctDNA), a fragment of cell-free DNA derived from malignant cells, has emerged as a promising biomarker in oncology. These DNA fragments carry essential genomic and epigenetic alterations, including point mutations, loss of heterozygosity, copy number variations, and promoter hypermethylation of tumor suppressor genes. ctDNA analysis enables non-invasive detection of these molecular changes, providing valuable insights into tumor biology. Moreover, abnormal methylation patterns in ctDNA-either hypo- or hypermethylation-often manifest at early stages of tumorigenesis and act as predictive indicators. The concentration and molecular profile of ctDNA correlate with tumor type, stage, and location, making it an effective tool for early cancer diagnosis, prognosis assessment, and treatment monitoring. This review summarizes the current advancements in ctDNA analysis, discusses its clinical applications across various cancer types, and highlights existing technical and biological challenges in ctDNA-based diagnostics.
Gao et al. (Mon,) studied this question.