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Table 1 Detection of cfDNA and its alterations in HCC patients

From: Circulating tumor DNA in hepatocellular carcinoma: trends and challenges

Forms Gene Tumor cfDNA Diagnostic/prognostic Notes
Methylation RASSF1A [17] (combined AFP) 59/63 (93 %) 12/22 (60 %) Associated with HCC
GSTP1 [15] 23/26 (88.5 %) 14/23 (61 %) Associated with HCC
p15 promoter [13] 16/25 (64 %) 4/16 (25 %) p15/p16 methylation in the plasma/serum was highly associated with HCC
p16 [16] 16/22 (73 %) 13/16 (81 %)
Microsatellite alterations D8S258 and D8S264 [25] Sensitivity (51.9 %) Specificity (77.5 %) NA Associated with HCC metastasis
Mutation Ser-249 p53 [34] NA 74/186 (39.8 %) Aflatoxin-associated mutation and chronic infection with HBV, multiplicative associated with HCC
DNA integrity LINE-1 hypomethylation [19] NA NA Associated with HCC
Viral DNA HBV DNA [39] NA NA NA Associated with TAE and lipiodol retention
/ Inflammatory cytokine genes [9] NA NA NA Amount higher in HCV-related HCCs than in HCV carriers
  1. * Includes all articles published to date that assess cfDNA detection and alterations of cfDNA in HCC patients, which were summarized and clarified the significance