Table 1.
Epigenetic Alteration | Gene Name(s)/Epigenetic Kit | Type of Liquid Biopsy | Intended Use | Reference |
---|---|---|---|---|
LUNG CANCER | ||||
DNA methylation |
-SHOX2/PTGER4 (EpiProLung)® -Gene sets including RASFF1A and other genes -BCAT1/CDO1/TRIM58/ZNF177 |
Blood | Diagnosis | [66] |
BAL/sputum | Diagnosis | [54,55,56,57,62] | ||
BAS/BAL/sputum | Diagnosis | [58] | ||
ncRNAs | -miR21 | Blood | Diagnosis | [74] |
-Several miRNA signatures | Blood | Diagnosis | [72,73] | |
GENITOURINARY CANCERS | ||||
DNA methylation | -Gene sets including GSTP1, RASFF1A, APC, ARF and RARB2 -Several gene sets (AssureMDx®, Bladder CARE®, Bladder EPICHECK®) -GSTP1 and HOXD3 (ProCUrE, Prostate cancer) |
Urine, blood | Diagnosis | [94,96] |
Urine, blood | Diagnosis | [103,108] | ||
Urine | Diagnosis | [116] | ||
ncRNAs | -Several miRNA and lncRNA signatures | Blood | Diagnosis | [118,119,120] |
BREAST CANCER | ||||
DNA methylation | -Gene sets including GSTP1, RASFF1A, BRCA1 and RARB2 -PITX2 |
Blood Blood |
Diagnosis Prognosis/response |
[129,130,131,132,133,136,137,138,139] [144,145] |
ncRNAs | -miR21 -Several miRNA signatures |
Blood | Diagnosis | [148] |
Blood | Diagnosis | [149,151] | ||
COLORECTAL CANCER | ||||
DNA methylation | -SEPT9 (EpiProColon®) | Stool, blood, | Diagnosis | [161,162] |
-SEPT9 and SDC2 (ColoDefense®) | Stool, blood | Diagnosis | [158] | |
-p16, RASFF1A, RARB2 | Blood | Diagnosis, prognosis | [168,169,170,171] | |
-BCAT1 and IKZF1 | Blood | Diagnosis | [172] | |
ncRNAs | -miR21 | Blood, saliva | Diagnosis | [174,175] |
-Several miRNA signatures | Blood | Diagnosis | [176,177] | |
OTHER CANCER TYPES AND MULTI-CANCER BIOMARKERS | ||||
DNA methylation | -RASFF1A (melanoma) | Blood | Diagnosis | [184] |
-MGMT (glioblastoma) | CSF | Response to therapy | [191] | |
-RASFF1A, p16, TIMP3 (oral cancer) | Blood, saliva | Diagnosis, prognosis | [193] | |
-DNA methylation signature PanSeer® | Blood | Diagnosis | [194] | |
-DNA methylation signature GRAIL® | Blood | Diagnosis | [169] | |
ncRNAs | -Several miRNA signatures | Blood | Diagnosis | [186,187,188,189] |