Table 3

Summary of mutations identified in 69 plasma samples of ovarian cancer patients. Samples were analyzed by TAm-Seq and in parallel by digital PCR. Using parameters optimized for plasma DNA, false-positive calls were lost, whereas all confirmed calls were retained, resulting in specificity and PPV of 100%.

First set of plasma samples
Plasma samples analyzed7
Point mutations originally detected by digital PCR, using patient-specific assays targeting mutations identified in tumor samples7
Point mutations identified directly in plasma by TAm-Seq8
De novo mutations identified by TAm-Seq only, subsequently confirmed by digital PCR1
Second set of plasma samples
Plasma samples analyzed62
Point mutations detected by digital PCR at AF >2%40
Point mutations with AF >2% (by digital PCR) identified by TAm-Seq39
Point mutations missed by TAm-Seq due to sampling error1
Sensitivity of TAm-Seq for identifying mutations at AF >2%97.5%
PPV of mutations called by TAm-Seq with AF >2%97.5%*
ctDNA in ovarian cancer
Advanced ovarian cancer patients in both sets38
Patients where TAm-Seq identified cancer mutations20

*One unconfirmed substitution was called at AF >2% using parameters optimized for FFPE material.

†The first set included 7 patients (Table 1), and the second set included 37 patients (table S6), 6 of whom overlap.