Circulating cell-free DNA (cfDNA) methylation markers (cfDNA methylation markers)

Circulating cell-free DNA (cfDNA) methylation markers represent a class of epigenetic signatures found on DNA fragments released into systemic circulation, primarily through cell death processes like apoptosis and necrosis (Heitzer et al., 2019, Nature Reviews Genetics). These markers consist of 5-methylcytosine modifications at CpG sites, which serve as stable indicators of tissue-of-origin and cellular state due to their role in gene regulation and differentiation (Moss et al., 2018, Nature Communications). In oncology, aberrant methylation patterns—such as the hypermethylation of tumor suppressor gene promoters—provide a highly sensitive and specific means for early cancer detection and minimal residual disease monitoring (Luo et al., 2021, Nature Communications). While cfDNA methylation markers are not therapeutic targets in the traditional sense (i.e., they are not proteins or enzymes targeted by small molecules or biologics), they are critical for patient stratification and treatment monitoring in precision medicine (Liu et al., 2020, Annals of Oncology). Beyond oncology, these markers are utilized in non-invasive prenatal testing (NIPT) to detect fetal abnormalities and in transplant medicine to monitor graft health (Lehmann-Werman et al., 2016, PNAS). The development of multi-cancer early detection (MCED) tests heavily relies on the high information density provided by these epigenetic signatures compared to somatic mutations (Loyola-Azqueta et al., 2020, Journal of Clinical Medicine).

Other names

cfDNA methylationCell-free DNA methylationMethylated circulating tumor DNAmctDNALiquid biopsy methylation markers

Not applicable as these are diagnostic and prognostic biomarkers rather than therapeutic targets.