Tumor-specific DNA methylation pattern in cell-free DNA

Tumor-specific methylation patterns in cell-free DNA refer to unique DNA methylation signatures enriched in circulating cfDNA fragments derived from tumor cells. Normally, DNA methylation is a common epigenetic modification influencing gene expression, cell identity, and genomic stability. In cancer, characteristic methylation changes include global hypomethylation alongside hypermethylation at certain CpG islands, often within gene promoters. These aberrant methylation patterns are preserved in cfDNA released into the bloodstream from apoptotic or necrotic tumor cells. By analyzing cfDNA methylation profiles or specific patterns (such as tumor-specific CpG methylation or repetitive element methylation like LINE-1), clinicians and researchers can non-invasively detect, classify, and monitor cancers, estimate tumor burden, predict treatment response, and track disease progression or recurrence. These patterns do not represent a single discrete molecular target (e.g., a receptor or enzyme) for therapy but serve as highly informative biomarkers for precision oncology and early cancer detection.

Other names

Tumor-specific cfDNA methylationCancer-specific cfDNA methylationcfDNA methylation signatureCirculating tumor DNA methylation (ctDNA methylation)