Evolution of non-invasive colorectal neoplasm detection

Table 1 Key stool DNA methylation markers evaluated as single markers for colorectal cancer detection

Genes	Function	Sensitivity/specificity, %	Ref.
APC	Tumor suppressor gene regulating Wnt signaling and cell adhesion	20-32.1/90-100	[115,116]
BMP3	Tumor suppressor gene regulating transforming growth factor-β pathway and cell differentiation	37.1-84/84-100	[117-121]
CDKN2A	Tumor suppressor gene regulating cell cycle via pRB and p53 pathways	20-40/84-100	[74,122,123]
GATA4	Tumor suppressor gene regulating cell differentiation and transforming growth factor-β signaling	42.9-71.4/84.4-95	[124,125]
HLTF	Tumor suppressor gene regulating DNA repair and chromatin remodeling	20-37.5/30-92.6	[115,126]
hMLH1	Tumor suppressor gene regulating mismatch repair and genomic stability	20-30/86.5-90	[115,127]
MGMT	Tumor suppressor gene reversing DNA alkylation damage	20-51.7/73-100	[74,115,116,123,127,128]
NDRG4	Tumor suppressor gene regulating PI3K/AKT signaling and differentiation	46.7-92/80-100	[117,118,121,125,129,130]
SDC2	Tumor suppressor gene regulating cell adhesion and Wnt signaling	69-95/81-98	[52,53,117,131-135]
SEPT9	Tumor suppressor gene regulating cytokinesis and genome stability	20/80	[136]
SFRP1	Tumor suppressor gene inhibiting Wnt signaling and cell proliferation	29.8-89/86-95.5	[137-139]
SFRP2	Tumor suppressor gene inhibiting Wnt signaling and angiogenesis	30-94.2/70-100	[48,115,117,118,123,125,128,140-144]
TFPI2	Tumor suppressor gene inhibiting extracellular matrix degradation and metastasis	31-92/86.7-100	[118,121,145,146]
VIM	Tumor suppressor gene regulating epithelial–mesenchymal transition and metastasis	41-86/72-100	[121,125-127,136,147-150]

APC: Adenomatous polyposis coli; BMP3: Bone morphogenetic protein 3; CDKN2A: Cyclin dependent kinase inhibitor 2A; GATA4: GATA binding protein 4; HLTF: Helicase like transcription factor; hMLH1: Human MutL homolog 1; MGMT: O6-methylguanine-DNA methyltransferase; NDRG4: N-Myc downstream regulated gene 4; SDC2: Syndecan 2; SEPT9: Septin 9; SFRP: Secreted frizzled related protein; TFPI2: Tissue factor pathway inhibitor 2; VIM: Vimentin; pRB: Retinoblastoma; PI3K: Phosphatidylinositol 3-kinase; AKT: Protein kinase B.