An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Homo sapiens

Circulating tumor DNA (ctDNA) represents a promising biomarker for detection of disease burden and for monitoring of recurrence. Previous methods for the detection of ctDNA have been limited by modest sensitivity, applicability to only a minority of patients with a given tumor type, the need for patient-specific optimization, and/or cost. We sought to address these limitations with a novel approach called CAncer Personalized Profiling by deep Sequencing (CAPP-Seq). CAPP-Seq combines targeted enrichment of recurrent mutations, ultra-deep sequencing of plasma DNA, and new bioinformatics approaches to achieve highly sensitive and specific noninvasive assessment of ctDNA in the vast majority of patients at low cost.