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Table 3 Common biomarkers of ctDNA for HCC

From: Current status of ctDNA in precision oncology for hepatocellular carcinoma

Targeted genes Classification Description of alteration Positive Rate Relevant pathway Main finding Potential blockade agent Reference
TP53 Suppressor Inactivating mutation/
Homozygous deletion
32% P53 signaling pathway Patients more likely to have high AFP values or high HBV virus loads and increased quantities of hepato-carcinogenic risk factors, in addition to a poor prognosis Bevacizumab,
Wee1 inhibitors
[60, 62,63,64]
TERT Oncogene Promoter mutation/
amplification/
translocation
51% Telomere maintenance Patients are more prone to suffer from vascular invasion, an advanced TNM stage (p < 0.0001), large intrahepatic tumor size, high des-gamma carboxyprothrombin value, and increased mortality GRN163L, BIBR1532, or some RNA interference [60, 65, 66]
CTNNB1 Oncogene Activating mutation 17% WNT signaling pathway Mutated CTNNB1 will help to stimulate gene expression, causing cell proliferation, anti-apoptosis and angiogenesis Small-molecular blockades LGK874, OMP-54F28 … [60, 67, 68]
AXIN Suppressor Inactivating mutation/ Homozygous deletion 6% WNT signaling pathway As a member of the core component of the “β-catenin destruction complex” Small molecular blockade XAV939 [60, 69]
CDKN2A Oncogene Inactivating mutation/ Homozygous deletion 7% Cell cycle The mutation is correlated with an advanced stage and aggressive biological behaviors Palbociclib [70]
ARID1A Suppressor Inactivating mutation 14.3% SWI/SNF complex related pathway There is a dual role of the ARID1A gene in tumorigenicity and cancer suppression for different temporal and cellular background in HCC [71]
ARID2 Suppressor Inactivating mutation 6% SWI/SNF complex related pathway There is a dual role of the ARID2 gene in tumorigenicity and cancer suppression for different temporal and cellular background in HCC [60]
RASSF1A Oncogene Methylation 36%(47) MAPK/RAS signaling pathway RASSF1A were shown to be closely related to HCC initiation and progression [72]
SEPT9 Suppressor Methylation 94.1%(48) Cell division SEPT9 are associated with early detection and poor prognosis of HCC tumors [73]