Summary of evidence for most promising methylation biomarkers for diagnosis of CRC in blood (sensitivity > 75%)
Biomarker gene(s) | Sensitivity (%) | Specificity (%) | Reference |
---|---|---|---|
ALX4 | 80–83 | 41–70 | [55, 56] |
ALX4, BMP3, NPTX2, RARB, SDC2, SEPT9, VIM | 91 | 73 | [57] |
ALX4, SEPT9, TMEFF2 | 81 | 90 | [32, 55] |
APC, MGMT, RASSF2A, WIF1 | 87 | 92 | [22] |
BCAT1, IKZF1 | 66–77 | 92–94 | [58] |
C9orf50, CLIP4, KCNQ5 | 85 | 99 | [59] |
C9orf50, KCNJ12, ZNF132, TWIST1 | 80 | 97 | [60] |
CYCD2, HIC1, PAX5, RASSF1A, RB1, SRBC | 84 | 68 | [61] |
EFHD1 | 79 | 78 | [29] |
EFDH1, PPP1R3C | 90 | 64 | [29] |
NPY | 87 | 80 | [62] |
PPP1R3C | 79–81 | 81 | [29] |
PRIMA1 | 81 | 73 | [49] |
PRIMA1, SDC2, SFRP1, SFRP2 | 92 | 97 | [49] |
RASSF2 | 93 | 53 | [61] |
SDC2 | 87–89 | 95–97 | [49, 50] |
SDC2, SEPT9 | 86–89 | 87–93 | [63–66] |
SDC2, SEPT9, SFRP2 | 94 | 89 | [67] |
SEPT9 | 75–90 | 92–97 | [32, 33, 68–72] |
SEPT9, CEA | 86 | 96 | [73] |
SFRP1 | 80 | 92 | [74] |
SPG20 | 81 | 97 | [75] |
ALX4: ALX homeobox 4; NPTX2: neuronal pentraxin 2; TMEFF2: transmembrane protein with EGF like and two follistatin like domains 2; KCNJ12: potassium inwardly rectifying channel subfamily J member 12; TWIST1: twist family bHLH transcription factor 1; CYCD2: predicted protein; HIC1: HIC ZBTB transcriptional repressor 1; PAX5: paired box 5; RB1: RB transcriptional corepressor 1; SRBC: CD2 molecule; PPP1R3C: protein phosphatase 1 regulatory subunit 3C; NPY: neuropeptide Y