Table 1.
Genetic alterations detected in the patient’s plasma and tumor biopsy specimens
| Genes | Alternations | Nucleotide change | MAF (plasma) | MAF (tumor) |
|---|---|---|---|---|
| BRCA2 | p. I2315T | c.6944T > C | 28% | 39.5% |
| KRAS | p. Q61R | c.182A > G | 27.4% | 43.2% |
| TP53 | p. R110del | c.329_331delGTC | 37.4% | 81.6% |
| APC | p. S1465RfsX9 | c.4393_4394dupAG | 26.7% | 71.7% |
| CCNE1 | Gene amplification | NA | 16.0-fold | 27.4-fold |
| CCNE1 | IGR (downstream UQCRFS1) ~ CCNE1 fusion | NA | 0.1% | – |
| PIK3CA | Gene amplification | NA | – | 1.9-fold |
| PKHD1 | p. R909X truncation | c.2725C > T | 4.9% | 16.9% |
| SOX2 | Gene amplification | NA | – | 2.0-fold |
| STMN1 | Gene amplification | NA | – | 1.8-fold |
| TERC | Gene amplification | NA | – | 1.9-fold |
| TUBB3 | Gene amplification | NA | – | 2.2-fold |
–, not detectable; NA, not applicable; MAF, mutant allele frequency. Gene amplification was presented as the relative fold change to normal controls