Table 2.
Concordant mutations detected in matched primary tumor tissue and plasma DNA.
| Patient no. | Cancer type | Tumor stage | Position | Gene | Mutation (amino acid change) | Mutation type | % Mutation: tumor (reads) | % Mutation: plasma (reads) | % Mutation: WBC (reads) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | UKN | IV | chr12:25398285 | KRAS | p.G12S | SNP | 20.8 (1457) | 2.0 (38182) | 0.0 (1758) |
| chr17:7577094 | TP53 | p.R243W | SNP | 22.4 (3673) | 2.9 (16441) | 0.0 (7293) | |||
| 2 | UKN | IV | chr12:25398284 | KRAS | p.E542K | SNP | 38.5 (4557) | 2.6 (18433) | 0.0 (1259) |
| chr3:178936082 | PIK3CA | p.G12V | SNP | 36.6 (2299) | 6.0 (22197) | 0.0 (544) | |||
| 9 | AC | IV | chr7:55259515 | EGFR | p.L858R | SNP | 94.1 (21309) | 3.5 (22058) | 0.1 (2373) |
| 13 | AC | IV | chr17:7578221 | TP53 | p.170_170del | DEL | 68.0 (688) | 53.2 (9707) | 0.0 (773) |
| 14 | UKN | IV | chr12:25398285 | KRAS | p.G12C | SNP | 36.9 (2793) | 3.1 (17862) | 0.0 (1944) |
| 15 | AC | IV | chr7:55249159 | EGFR | p.V819V | SNP | 18.5 (519) | 0.1 (30426) | 0.0 (563) |
| 38 | AC | IV | chr17:7577538 | TP53 | p.R209Q | SNP | 72.2 (562) | 1.8 (23518) | 0.0 (811) |
| 39 | AC | IV | chr17:7578461 | TP53 | p.V118F | SNP | 22.9 (484) | 2.6 (7964) | 0.0 (643) |
| 54 | AC | IIIb | chr3:178936091 | PIK3CA | p.G115V | SNP | 33.2 (511) | 1.0 (18467) | 0.0 (1059) |
| chr17:7578469 | TP53 | p.E545K | SNP | 25.6 (769) | 0.7 (35173) | 0.0 (2136) | |||
| 93 | AC | IV | chr7:55242464 | EGFR | p.745_750del | DEL | 16.3 (1022) | 2.7 (50034) | 0.0 (843) |
| 94 | AC | IIIa | chr3:178917005 | PIK3CA | Intronic | SNP | 26.2 (728) | 29.2 (571) | 0.0 (252) |
| 95 | AC | IIIa | chr3:178917005 | PIK3CA | Intronic | SNP | 24.0 (542) | 20.0 (730) | 0.0 (313) |
| 98 | SCC | IIIb | chr17:7578478 | TP53 | p.P112R | SNP | 30.7 (1559) | 4.5 (9977) | 0.1 (1585) |
| 100 | AC | IIIb | chr12:25398284 | KRAS | p.G12D | SNP | 18.3 (9992) | 0.7 (53005) | 0.0 (16039) |
| 104 | AC | IIIa | chr17:7577580 | TP53 | p.Y195C | SNP | 13.5 (9995) | 0.2 (108944) | 0.0 (11422) |
| 108 | AC | IIIa | chr12:25398284 | KRAS | p.G12V | SNP | 1.0 (11929) | 2.0 (42432) | 0.0 (18570) |
| 110 | AC | IIIa | chr12:25398285 | KRAS | p.G12C | SNP | 26.4 (5905) | 34.2 (33282) | 0.0 (16680) |
| 122 | AC | IIIa | chr17:7579472 | TP53 | p.P33R | SNP | 100.0 (5283) | 37.2 (24925) | 0.0 (10701) |
| 129 | LCLC | IIIa | chr17:7579472 | TP53 | p.P33R | SNP | 85.0 (5618) | 0.8 (30074) | 0.0 (6335) |
| 136 | UKN | IIIa | chr7:55249063 | EGFR | p.Q787Q | SNP | 18.7 (1412) | 3.1 (9998) | 0.1 (3909) |
(SCC: squamous cell carcinoma; AC: adenocarcinoma; LCLC: large cell lung cancer; UKN: unknown; SNP: single nucleotide polymorphism; DEL: deletion).