Table 2. Frequently-mutated biomarkers for ctDNA of HCC.
| Biomarkers | Alterations | Relevant pathway | Classification | D/P/T | Ref. |
| ctDNA, circulating tumor DNA; HCC, hepatocellular carcinoma; SNV, single nucleotide variation; CNV, copy number variation; HBV, hepatitis B virus; D, diagnostic; P, prognostic; T, therapeutic. | |||||
| TP53 | SNV (insertion or deletion of bases, e.g., Ser-249) |
P53 signaling pathway | Suppressor | D, P & T | (35-37) |
| TERT | SNV | Telomerase maintenance | Oncogene | P | (35,37,38) |
| CTNNB1 | Mutation | WNT signaling pathway | Oncogene | P & T | (35,39) |
| AXIN1 | Homozygous deletion | WNT signaling pathway | Suppressor | P | (35,40) |
| CDKN2A | Homozygous deletion/ methylation | Cell cycle | Oncogene | T | (37,41) |
| ARID1A | Mutation | SWI/SNF complex-related pathway | Suppressor | P | (42) |
| ARID2 | Mutation | SWI/SNF complex-related pathway | Suppressor | P | (34) |
| RASSF1A | Hypermethylation | MAPK/RAS signaling pathway | Oncogene | D & P | (37,43) |
| SEPT9 | Hypermethylation | Cell division | Suppressor | D | (37,44) |
| KRAS | SNV | MAPK/RAS signaling pathway | Oncogene | T | (37) |
| CDK6 | CNV (loss of 1p) | Cell division | Not known | T | (37) |
| EGFR | CNV (loss of 4q) | EFGR signaling pathway | Oncogene | D/T | (37) |
| MYC | CNV (loss of 8p) | Transcription factor | Proto-oncogene | P/T | (37) |
| WWP1 | Gain of function in cell division | Smad signaling | Oncogene | Poor prognosis | (37) |
| KMT2C (MLL3) | HBV integration/ hypomethylation |
Chromatin remodeling | Suppressor | Early detection of recurrent HCC |
(37) |
| CCNA2 | HBV integration/ hypomethylation |
Cell cyclin family | Tumorigenic gene | Early detection of recurrent HCC/P |
(37) |
| BRAF | CNV (gain of 8q) | Ras/Raf/MEK/ERK | Proto-oncogene | T | (37) |
| CCND1 | Focal amplification or deletion | P53 signaling pathway | Oncogene | − | (37) |