Table 1.
Commercially available Epigenetic IVD tests with the potential of improving precision medicine in cancer.
| Diseases | Epigenetic biomarkers | Commercial tests | Technology for the analysis | Biospecimen | Sn (%) | Sp (%) |
|---|---|---|---|---|---|---|
| Colorectal cancer | DNA methylation (NDRG4 and BMP3) | Cologuard ® stool-DNA-based test | Stool-based CRC test | Stool | 92.3 | 86.6 |
| DNA methylation (SEPT9) | Epi proColon ® 2.0 test | MethyLight | CfDNA from blood | 75-81 | 96-91 | |
| DNA methylation (SDC2) | EarlyTect ® CRC assay | MethyLight | CfDNA from blood | 87 | 95.2 | |
| miR-31-3p | miRPreDX-31-3p | RT-qPCR | FFPE | NA | NA | |
| Breast cancer | DNA methylation (PITX2) | Therascreen PITX2 RGQ PCR kit. | MethyLight | FFPE; DNA from blood | NA | NA |
| Cervical cancer | DNA methylation (ZNF582) | Cervi-M ® assay | Methyl-specific PCR | Epithelial cells from cervical brush | 73 | 80 |
| Glioblastoma | DNA methylation (MGMT) | Therascreen MGMT Pyro Kit | Pyrosequencing | FFPE, DNA from blood | 95-97 | NA |
| Lung cancer | DNA methylation (SHOX2 and PTGER4) | Epi proLung BL Reflex Assay ® | Methyl-specific PCR | CfDNA from blood | 78 | 96 |
| Cancers of unknown origin | Analysis of 450K CpGs | EPICUP ™ | Human methylation Beadchip 450 K (Illumina) | FFPE | 97.7 | 99.6 |
cfDNA, circulating cell-free DNA; FFPE, formalin-fixed, paraffin-embedded; Sn, Sensitivity; Sp, specificity; NA, data not available.