TABLE 3.
DNA Methylation-based pan-cancer test for GC detection.
| Cancer types | Markers | Authors | Year | Country | Sample types | Number of subjects | Methods | SN (%) | GC SN (%) | SP (%) | AUC | TOO (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GC, CRC | RASSF2 and SFRP2 | Nagasaka et al. (2009) | 2009 | Japan | 0.1 g stool | 21 GC, 84 CRC, 27 AA, 113 control | Hi-SA | 67.6 | 44.4 | 89.4 | 0.78 | — |
| GC, CRC, EC, HCC and LC | cfDNA methylation | Chen et al. (2020) | 2020 | China | 1 mL plasma | Training cohort: 207 healthy, 203 cancers | Targeted bisulfite sequencing | Training cohort: 88.2–91.4 | — | Training cohort: 94.7 | — | — |
| Validation cohort: 207 healthy, 211 cancers | Validation cohort:87.6–94.9 | Validation cohort: 96.1 | ||||||||||
| 12 cancer classes (anus, bladder, colon/rectum, esophagus, head and neck, liver/bile duct, lung, lymphoma, ovary, pancreas, plasma cell neoplasm, and stomach) | Targeted methylation | Klein et al. (2021) | 2021 | United States | 10 mL plasma | 15,254 participants (56% with cancer, and 44% without cancer), included 30 GC | Bisulfite sequencing | 51.5 | 66.7 | 99.5 | — | 88.7 |
| CRC, HCC, ESCC, GC, EAC, PC | cfDNA methylation | Kandimalla et al. (2021) | 2021 | United States | 1–2 mL plasma | 46 healthy, 40 CRC, 74 PC, 43 HCC, 12 EAC, 48 ESCC, 37 GC | Targeted bisulfite sequencing | — | — | 96.0 | 0.88 | 0.53–0.94 |
| GC, EJC and EC | ELMO1, ZNF582 and TFPI2 | Peng et al. (2022) | 2022 | China | 3.5 mL plasma | 109 GC, 29 EJC, 48 EC, 190 Control | qMSP | 71.0 | 67.9 | 90.0 | 0.87 | — |
| GC, CRC and EC | Six methylation biomarkers | Ma et al. (2022a) | 2022 | China | 3.5 mL plasma | 136 GC, 98 CRC, 48 EC, 195 Control | qMSP | 76.6 | 69.9 | 89.2 | 0.90 | — |
| GC and CRC | SDC2, TFPI2, WIF1 and NDRG4 | Ma et al. (2022b) | 2022 | China | 3 g stool | 35 GC, 39 CRC, 6 AA, 107 healthy, 30 other cancers | qMSP | 68.8 | 67.5 | 97.8 | — | — |
| CRC, GC, HCC, EC, and PC | cfDNA methylation and fragmentation signatures | Yang et al. (2023) | 2023 | China | Plasma | 787 healthy, 342 HCC, 239 GC, 209 EC, 180 CRC, and 87 PC | Targeted bisulfite sequencing | 86.2 | 70.3 | 96.7 | 0.96 | 82.0 |
SN, sensitivity; SP, specificity; AUC, area under the curve; GC, gastric cancer; CRC, colorectal cancer; EC, esophageal cancer; HCC, hepatocellular carcinoma; LC, lung cancer; PC, pancreatic adenocarcinoma; EJC, esophagogastric junction cancer; ESCC, esophageal squamous cell carcinoma; EAC, esophageal adenocarcinoma; AA, advanced adenomas; TOO, tissue of origin; MSP, methylation specific PCR; qMSP, quantitative methylation specific PCR; cfDNA, cell-free DNA; Hi-SA, Fluoroscence High-sensitivity assay for bisulfite DNA.