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Cell-Free Circulating DNA in the Diagnosis of Cancer

Toshiro Ito

Circulating cell-free DNA (cfDNA), unconfined from normal and cancerous cells, is an exciting new biomarker. Circulating tumor DNA (ctDNA) usually covers genetic changes that could be useful for detecting cancer. ctDNA has supplementary important applications, including prognosis, monitoring therapy and estimating tumor volume. These applications are less controversial than early cancer discovery, and are used extensively in research settings. The cancers were always diagnosed clinically or through imaging. Previously, we calculated tumor size, expected amount of ctDNA in a 10-ml blood draw, ctDNA fraction (percentage of ctDNA compared to total cfDNA; this is equivalent to mutant allele fraction, MAF), number of saved genomes per 10 ml of blood, and likelihood of tumor detection with ctDNA genomic analysis.