Circulating tumor DNA and tumor-specific methylation patterns (ctDNA)

Circulating tumor DNA (ctDNA) refers to fragments of DNA shed by malignant cells into the blood, carrying the same genetic and epigenetic alterations as the primary tumor (NCI, 2023). Tumor-specific methylation patterns involve the addition of methyl groups to CpG sites, which often leads to the silencing of tumor suppressor genes and serves as a highly specific biomarker for early cancer detection (Nature Reviews Cancer, 2018). These analytes are the foundation of liquid biopsy technology, allowing for non-invasive monitoring of tumor burden, treatment response, and the emergence of resistance mutations (PubMed, 2021). While ctDNA and its methylation status are invaluable for clinical diagnostics and patient stratification, they do not function as therapeutic targets for drug binding. Instead, they act as surrogate markers for the presence and molecular state of cancer within the body (Science, 2020). The detection of these patterns enables clinicians to identify minimal residual disease and tailor therapeutic interventions based on the evolving genetic profile of the tumor (Journal of Clinical Oncology, 2022).

Other names

ctDNACell-free tumor DNAcfDNA methylationLiquid biopsy DNATumor-derived cell-free DNA

Not applicable; this is a diagnostic biomarker and not a therapeutic target.