Summary of evidence for most promising methylation biomarkers for diagnosis of CRC in stool (sensitivity > 75%)
Biomarker gene(s) | Test | Sensitivity (%) | Specificity (%) | Reference |
---|---|---|---|---|
APC, ATM, hMLH1, HLTF, MGMT, SFRP2 | CRC | 75 | 90 | [84] |
COL4A2, TLX2 | CRC | 91 | 98 | [80] |
FBN1, SNCA | CRC | 84 | 93 | [85] |
GATA5 | CRC | 84 | 83 | [86] |
GDNF, SNAP91, NDRG4 | CRC | 86 | 96 | [28] |
HPP1 | CRC | 100 | 71 | [87] |
HPP1, MGMT, SFRP2 | Adenoma | 94 | 77 | [87] |
ITGA4, SFMBT2, THBD, ZNF304 | CRC | 96 | 87 | [88] |
KCNJ12, VAV3-AS1, EVC | CRC | 83 | 71 | [88] |
NDRG4 | CRC | 76–98 | 89 | [82, 83, 86] |
NDRG4, BMP3 | CRC | 98 | 90 | [89] |
NDRG4, BMP3, mutation KRAS, hemoglobin | CRC | 92–98 | 87–90 | [89, 90] |
Adenoma | 82 | 93 | [54] | |
NEUROD1, FAM72C | CRC | 83 | 77 | [88] |
MLH1, VIM, MGMT | CRC | 75 | 86.5 | [91] |
RARB2, p16INK4a, MGMT, APC | CRC | 75 | / | [24] |
SDC2 | CRC | 90 | 89 | [51] |
SFRP2 | Adenoma | 76–87 | 55–100 | [9, 52] |
SFRP2, TFPI2, NDRG4, BMP3 | CRC | 94 | 55 | [52] |
SEPT9 | Adenoma | 83 | 92 | [92] |
VIM, NDRG4, BMP3, TFPI2 | CRC | 89 | 90 | [76] |
SFRP1 | CRC | 89 | 86 | [93] |
VIM | CRC | 38–81 | 82–95 | [94] |
Adenoma | 33–83 | 93–100 | [95] | |
SFRP2, GATA4/5, NDRG4, VIM | CRC | 96 | 65 | [96] |
TFPI2 | Adenoma | 81 | 94 | [97] |
CRC | 76–93 | 89–100 | [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