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. 2021 Jun 16;13(12):3016. doi: 10.3390/cancers13123016

Table 1.

Top methylated genes/signatures and ncRNAs identified in liquid biopsies from cancer patients, with an emerging role as biomarkers. BAL: bronchoalveolar lavage; BAS: bronchoalveolar aspirate; CSF: cerebrospinal fluid.

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]