Summary of evidence for most promising methylation biomarkers for diagnosis of CRC in blood (sensitivity > 75%)

Biomarker gene(s)Sensitivity (%)Specificity (%)Reference
ALX480–8341–70[55, 56]
ALX4, BMP3, NPTX2, RARB, SDC2, SEPT9, VIM9173[57]
ALX4, SEPT9, TMEFF28190[32, 55]
APC, MGMT, RASSF2A, WIF18792[22]
BCAT1, IKZF166–7792–94[58]
C9orf50, CLIP4, KCNQ58599[59]
C9orf50, KCNJ12, ZNF132, TWIST18097[60]
CYCD2, HIC1, PAX5, RASSF1A, RB1, SRBC8468[61]
EFHD17978[29]
EFDH1, PPP1R3C9064[29]
NPY8780[62]
PPP1R3C79–8181[29]
PRIMA18173[49]
PRIMA1, SDC2, SFRP1, SFRP29297[49]
RASSF29353[61]
SDC287–8995–97[49, 50]
SDC2, SEPT986–8987–93[6366]
SDC2, SEPT9, SFRP29489[67]
SEPT975–9092–97[32, 33, 6872]
SEPT9, CEA8696[73]
SFRP18092[74]
SPG208197[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