Table 2.
Testing tumour biomarker genes (other than epidermal growth factor receptor and TP53) variants in cell-free DNA by the next-generation sequencing test
| SNV gene | Variant | Coding change | Variant description | Allele fraction (%) | Variant depth | Molecular mutant per mL (n) |
| NTRK1 | Exon 17 p.I737I | c.2211C>T | Synonymous variant | 2.97 | 119/4007 | 225 |
| RB1 | Exon 19 p.V654M | c.1960G>A | Missense variant | 7.91 | 286/3616 | 598 |
| ROS1 | Exon 41 p.L2157V | c.6469C>G | Missense variant | 0.28 | 4/1417 | 2.1 |
| PMS2 | Exon 11 p.A660A | c.1980C>T | Synonymous variant | 44.08 | 901/2044 | 425 |
| PMS2 | Exon 3 p.D70G | c.209A>G | Missense variant | 47.13 | 345/732 | 505 |
| PTCH1 | Exon 17 p.N929N | c.2787C>T | Synonymous variant | 46.50 | 1789/3847 | 4490 |
| PTCH1 | Exon 14 p.R665C | c.1993C>T | Missense variant | 1.32 | 44/3332 | 12.7 |
| PTCH1 | Exon 22 p.A1247A | c.3741G>A | Synonymous variant | 1.57 | 32/2034 | 22.5 |
| BRAF | Exon 15 p.V600E | c.1799T>A | Missense variant | 0.08 | 2/2561 | 1.3 |
| GNAS | Exon 8 p.R202C | c.604C>T | Missense variant | 1.32 | 35/2655 | 21.2 |
| ERBB2 | Exon 23 p.K937R | c.2810A>G | Missense variant | 0.21 | 5/2390 | 4.5 |
| ERBB2 | Exon 26 p.R1111Q | c.3332G>A | Missense variant | 0.61 | 12/1961 | 13.1 |
| CTNNB1 | Exon 3 p.S33Y | c.98C>A | Missense variant | 0.07 | 3/4597 | 63 |
| PTEN | Exon 5 p.H93Y | c.277C>T | Missense variant | 4.32 | 157/3633 | 162 |
| PTEN | Exon 8 p.N323fs | c.968dupA | Frameshift variant | 0.12 | 1/841 | 0.9 |
| PTEN | Exon 8 p.N323fs | c.968dupA | Frameshift variant | 0.11 | 1/892 | 1.2 |