Table 1.
Clinical characteristics of patients and carriers
| Variable | Patients, No. (%) (n = 45) |
|---|---|
| Sample sources | |
| Colon Cancer Family Registry | 9 (20.0) |
| Tissue For Research Ltda | 13 (28.9) |
| Heidelberg | 18b (40.0) |
| Weill Cornell | 5b (11.1) |
| Samples | |
| Plasma or serum only | 16 (35.6) |
| Plasma or serum with matched tumor | 23c (51.1) |
| Tumors without matched plasma or serum | 6 (13.3) |
| Cancer type | |
| Colorectum and cecum | 34 (75.6) |
| Small intestine | 1 (2.2) |
| Prostate | 1 (2.2) |
| Ovarian | 1 (2.2) |
| Endometrial | 3 (6.7) |
| Glioblastoma | 1 (2.2) |
| Lynch syndrome carrier without active cancer | 1d (2.2) |
| Stomach | 1 (2.2) |
| Unknown | 2 (4.4) |
| Microsatellite instability status | |
| High microsatellite instability | 31 (68.9) |
| Mismatch repair-deficient without microsatellite instability status | 8 (17.8) |
| Unknown | 6 (13.3) |
| Tumor stage | |
| I | 2 (4.4) |
| II | 4 (8.9) |
| III | 14 (31.1) |
| IV | 8 (17.8) |
| Unknown | 17 (37.8) |
| Tumor grade | |
| 1 | 2 (4.4) |
| 2 | 12 (26.7) |
| 3 | 11 (24.4) |
| 4 | 1 (2.2) |
| Unknown | 19 (42.2) |
| Race | |
| Black or African American | 1 (2.2) |
| White | 12 (26.7) |
| Unknown | 32 (71.1) |
| Age, y | |
| ≤50 | 13 (28.9) |
| >50 | 19 (42.2) |
| Unknown | 13 (28.9) |
a
Only 4 serum samples were used in this study from this source. All the remaining blood samples were plasma.
b
One cell-free DNA sample from each of these 2 sites did not complete the Archer analysis pipeline because of low reads and thus was excluded from subsequent analysis.
c
Ten patients also had matched adjacent normal tissue.
d
The only Lynch syndrome carrier with 2 plasma samples available (no active cancer detected at either blood collection time).