Table 4.
Number of frameshift mutations detected in matched high microsatellite instability tumor, buffy coat, and adjacent normal tissue samples
| Sample ID | Tumor |
Buffy coat |
Adjacent normal |
|
|---|---|---|---|---|
| Variants, No. | Targets, No. (%) | Targets, No. (%) | Targets, No. (%) | |
| Colon Cancer Family Register (formalin fixed, paraffin embedded) | ||||
| P30 | 68 | 55 (45.1) | 1 (0.8) | — |
| P31 | 37 | 35 (28.7) | 0 (0) | — |
| P32 | 74 | 65 (53.3) | 0 (0) | — |
| P33 | 62 | 55 (45.1) | 0 (0) | — |
| P34 | 66 | 57 (46.7) | 0 (0) | — |
| P35 | 147 | 98 (80.3) | 1 (0.8) | — |
| P36 | 189 | 112 (91.8) | 0 (0) | — |
| P37 | 179 | 109 (89.3) | 5 (4.1) | — |
| P38 | 158 | 100 (82.0) | 0 (0) | — |
| Heidelberg (frozen) | ||||
| P1 | 158 | 100 (82.0) | — | 22 (18.0) |
| P2 | 78 | 63 (51.6) | — | 4 (3.3)a |
| P3 | 125 | 78 (63.9) | — | 19 (15.6) |
| P4 | 84 | 70 (57.4) | — | 6 (4.9)a |
| P5 | 132 | 89 (73.0) | — | 26 (21.3) |
| P6 | 67 | 53 (43.4) | — | 9 (7.4)a |
| P7 | 70 | 52 (42.6) | — | 17 (13.9) |
| P8 | 76 | 69 (56.6) | — | 32 (26.2) |
| Tissue For Research Ltd (frozen) | ||||
| P50 | 118 | 81 (66.4) | — | — |
| P51 | 115 | 74 (60.7) | — | — |
| P52 | 93 | 71 (58.2) | — | — |
| P53 | 41 | 35 (28.7) | — | — |
| P54 | 52 | 38 (31.1) | — | — |
| P55 | 72 | 63 (51.6) | — | 4 (3.3) |
| P56 | 79 | 54 (44.3) | 0 (0) | 7 (5.7) |
| P57 | 97 | 74 (60.7) | — | — |
| P58 | 80 | 53 (43.4) | 0 (0) | — |
| P59 | 56 | 42 (34.4) | 1 (0.8) | — |
| P60 | 70 | 57 (46.7) | 0 (0) | — |
| P61 | 1 | 1 (0.8) | 0 (0) | — |
a
Failed quality control due to low unique DNA start sites per gene-specific primer 2 (<50). These samples were not resequenced because of limited DNA availability. — = No matched samples available.