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

Biomarker gene(s)TestSensitivity (%)Specificity (%)Reference
APC, ATM, hMLH1, HLTF, MGMT, SFRP2CRC7590[84]
COL4A2, TLX2CRC9198[80]
FBN1, SNCACRC8493[85]
GATA5CRC8483[86]
GDNF, SNAP91, NDRG4CRC8696[28]
HPP1CRC10071[87]
HPP1, MGMT, SFRP2Adenoma9477[87]
ITGA4, SFMBT2, THBD, ZNF304CRC9687[88]
KCNJ12, VAV3-AS1, EVCCRC8371[88]
NDRG4CRC76–9889[82, 83, 86]
NDRG4, BMP3CRC9890[89]
NDRG4, BMP3, mutation KRAS, hemoglobinCRC92–9887–90[89, 90]
Adenoma8293[54]
NEUROD1, FAM72CCRC8377[88]
MLH1, VIM, MGMTCRC7586.5[91]
RARB2, p16INK4a, MGMT, APCCRC75/[24]
SDC2CRC9089[51]
SFRP2Adenoma76–8755–100[9, 52]
SFRP2, TFPI2, NDRG4, BMP3CRC9455[52]
SEPT9Adenoma8392[92]
VIM, NDRG4, BMP3, TFPI2CRC8990[76]
SFRP1CRC8986[93]
VIMCRC38–8182–95[94]
Adenoma33–8393–100[95]
SFRP2, GATA4/5, NDRG4, VIMCRC9665[96]
TFPI2Adenoma8194[97]
CRC76–9389–100[97, 98]

ATM: ATM serine/threonine kinase; hMLH1: homo sapiens DNA mismatch repair; HLTF: helicase like transcription factor; GATA5: GATA binding protein 5; HPP1: hyperpigmentation progressive 1; SFMBT2: Scm like with four mbt domains 2; THBD: thrombomodulin; VAV3-AS1: VAV3 antisense RNA 1; EVC: EvC ciliary complex subunit 1; NEUROD1: neuronal differentiation 1; FAM72C: family with sequence similarity 72 member C; MLH1: MutL homolog 1