No | Biomarker | Acronym | Cancer | DNA alteration | Assay type (qPCR, ddPCR, BEAMing, NGS, Other) | Size Cases (controls) | Plasma or Serum | Refs |
---|---|---|---|---|---|---|---|---|
1 | 14–3-3 sigma | 14–3-3 s | Breast | Methylation | qPCR | 106 (74) | Serum | [48] |
2 | absent in melanoma 1 | AIM1; Beta/gamma crystallin domain-containing protein 1 | Lung | Methylation | qPCR | 76 (30) | Serum | [62] |
3 | ADAM: metallopeptidase with thrombospondin type 1 motif, 1 | ADAMTS1 | Pancreatic | Methylation | qPCR | 42 | Serum | [63] |
4 | Adenomatous Polyposis Coli | APC | Lung | Methylation | qPCR | 76 (30) | Serum | [62] |
CRC | Mutation | qPCR | 33 (10) | Plasma | [64] | |||
Testicular | Methylation | qPCR | 73 (35) | Serum | [47] | |||
CRC | Mutation | qPCR | 191 | Plasma | [65] | |||
CRC | Methylation | qPCR | 33 | Serum | [53] | |||
CRC | Mutation | PCR | 104 | Serum | [66] | |||
Ovarian | Methylation | qPCR | 87 (62) | Serum | [67] | |||
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
Lung | Methylation | qPCR | 110 (50) | Plasma | [70] | |||
Renal | Methylation | qPCR | 27 (15) | Plasma | [71] | |||
CRC | Methylation | PCR | 60 (100) | Plasma | [72] | |||
5 | ALU repeat | Alu 115Â bp | Breast | NA | qPCR | 39 (49) | Plasma | [22] |
Alu 247Â bp | Pancreatic | NA | qPCR | 73 (43) | Plasma | [73] | ||
CRC | NA | qPCR | 50 (35) | Plasma | [20] | |||
Breast | NA | qPCR | 293 (100) | Plasma | [19] | |||
Thyroid | NA | qPCR | 176 (19) | Plasma | [24] | |||
CRC | NA | qPCR | 104 (173) | Serum | [23] | |||
6 | basonuclin 1 | BNC1 | Pancreatic | Methylation | qPCR | 42 | Serum | [63] |
7 | BIN1 | BIN1 | Breast | Methylation | qPCR | 76 (30) | Serum | [62] |
8 | BLU | BLU | Lung | Methylation | qPCR | 63 (36) | Plasma | [74] |
9 | BRAF | BRAF (V600E) | Melanoma | Mutation | qPCR | 221 | Both | [17] |
Lung | Mutation | NGS | 68 (107) | Plasma | [75] | |||
LCH | Mutation | qPCR | 30 | Plasma | [76] | |||
CRC | Mutation | qPCR | 106 | Plasma | [77] | |||
Thyroid | Mutation | qPCR | 77 | Plasma | [78] | |||
CRC | Mutation | BEAMing | 503 | Plasma | [21] | |||
CRC | Mutation | qPCR | 191 | Plasma | [65] | |||
10 | BRCA1 | BRCA1 | Breast | Methylation | qPCR | 89 | Serum | [79] |
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
Ovarian | Methylation | PCR | 50 | Serum | [80] | |||
Ovarian | Methylation | PCR | 33 (33) | Plasma | [81] | |||
11 | CALCA | CALCA | Ovarian | Methylation | PCR | 30 (30) | Plasma | [82] |
12 | CDH1 | CDH1 | Ovarian | Methylation | qPCR | 87 (62) | Serum | [67] |
13 | CDH13 | CDH13 | Lung | Methylation | qPCR | 63 (36) | Plasma | [74] |
Lung | Methylation | qPCR | 110 (50) | Plasma | [70] | |||
14 | CDO1 | CDO1 | Various | Methylation | qPCR | 150 (60) | Plasma | [83] |
15 | CHD1 | CHD1 | Lung | Methylation | qPCR | 76 (30) | Serum | [62] |
16 | CST6 | CST6 | Breast | Methylation | qPCR | 196 (37) | Plasma | [84] |
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
17 | CHRM2 | CHRM2 | Gastric | Methylation | qPCR | 58 (30) | Serum | [85] |
18 | CYCD2 | CYCD2 | CRC | Methylation | qPCR | 30 (30) | Plasma | [86] |
19 | DAPK1 | DAPK1 | HNSCC | Methylation | PCR | 40 (41) | Serum | [87] |
20 | DCC | DCC | Lung | Methylation | qPCR | 76 (30) | Serum | [62] |
21 | DCLK1 | DCLK1 | Lung | Methylation | qPCR | 65 (95) | Plasma | [88] |
Lung | Methylation | qPCR | 32 (8) | Plasma | [89] | |||
22 | DKK3 | DKK3 | Breast | Methylation | qPCR | 604 (59) | Serum | [90] |
23 | DLEC1 | DLEC1 | Lung | Methylation | qPCR | 110 (50) | Plasma | [70] |
HNSCC | Methylation | PCR | 40 (41) | Serum | [87] | |||
24 | DNA (NOS) | DNA | Lung | NA | qPCR v Seq | 30 (26) | Plasma | [91] |
Various | No | NGS | 77 (35) | Plasma | [45] | |||
Various | No | NGS | 640 | Plasma | [16] | |||
Lung | No | qPCR | 65 (44) | Plasma | [92] | |||
Ovarian | No | bDNA | 36 (41) | Serum | [93] | |||
25 | e-cadherin | e-cadherin | Colorectal | Methylation | PCR | 60 (100) | Plasma | [72] |
26 | EGFR | EGFR | Lung | Mutation | NGS | 68 (107) | Plasma | [75] |
27 | EP300 | EP300 | Ovarian | Methylation | PCR | 30 (30) | Plasma | [82] |
28 | ERBB2 | HER2 | Lung | Mutation | NGS | 68 (107) | Plasma | [75] |
Breast | Amplification | qPCR | 120 (98) | Plasma | [14] | |||
Oesphageal | Amplification | qPCR | 41 (34) | Plasma | [94] | |||
29 | ESR | ESR | Breast | Methylation | qPCR | 106 (74) | Serum | [48] |
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
30 | FAM5C | FAM5C | Gastric | Methylation | qPCR | 58 (30) | Serum | [85] |
31 | FHIT | FHIT | Lung | Methylation | qPCR | 63 (36) | Plasma | [74] |
Renal | Methylation | qPCR | 27 (15) | Plasma | [71] | |||
32 | Glyceraldehyde-3-phosphate dehydrogenase | GAPDH | Breast | NA | qPCR | 200 (100) | Serum | [26] |
Breast | NA | qPCR | 33 (50) | Serum | [27] | |||
Breast | NA | qPCR | 27 (32) | Serum | [28] | |||
Breast | NA | qPCR | 33 (32) | Serum | [29] | |||
33 | GNA11 | GNA11 | Uveal Melanoma | Mutation | NGS | 28 | Plasma | [34] |
34 | GNAQ | GNAQ | Uveal Melanoma | Mutation | NGS | 28 | Plasma | [34] |
35 | GPC3 | GPC3 | Pancreatic | Methylation | qPCR | 30 (30) | Plasma | [86] |
36 | GSTP1 | GSTP1 | Breast | Methylation | qPCR | 89 | Serum | [79] |
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
Prostate | Methylation | PCR | 12 (10) | Plasma | [95] | |||
Prostate | Methylation | qPCR | 31 (44) | Plasma | [96] | |||
Testicular | Methylation | qPCR | 73 (35) | Serum | [47] | |||
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
Prostate | Methylation | PCR | 31 (34) | Serum | [97] | |||
37 | HIC1 | HIC1 | CRC | Methylation | PCR | 30 (30) | Plasma | [98] |
CRC | Methylation | qPCR | 30 (30) | Plasma | [86] | |||
38 | HOXA7 | HOXA7 | Various | Methylation | qPCR | 150 (60) | Plasma | [83] |
39 | HOXA9 | HOXA9 | Various | Methylation | qPCR | 150 (60) | Plasma | [83] |
40 | HOXD13 | HOXD13 | Breast | Methylation | qPCR | 253 (434) | Serum | [99] |
41 | IgH | FR3A/VLJH | Lymphoma | Clonality | NGS | 75 | Plasma | [43] |
42 | ITIH5 | Â | Breast | Methylation | qPCR | 604 (59) | Serum | [90] |
43 | INK4A | INK4A | HCC | Methylation | Seq | 66 (43) | Plasma | [100] |
44 | KLK10 | KLK10 | Lung | Methylation | qPCR | 110 (50) | Plasma | [70] |
45 | KRAS | KRAS | Lung | Mutation | NGS | 68 (107) | Plasma | [75] |
CRC | Mutation | qPCR | 52 | Plasma | [101] | |||
CRC | Mutation | qPCR | 35 (135) | Plasma | [30] | |||
CRC | Mutation | qPCR | 229 (100) | Plasma | [102] | |||
CRC | Mutation | qPCR | 106 | Plasma | [77] | |||
Lung | Mutation | qPCR | 82 (11) | Plasma | [103] | |||
CRC | Mutation | BEAMing | 503 | Plasma | [21] | |||
CRC | Mutation | qPCR | 191 | Plasma | [65] | |||
CRC | Mutation | PCR | 104 | Serum | [66] | |||
46 | LINE1 Repeat | LINE1 79Â bp | CRC | NA | qPCR | 50 (35) | Plasma | [20] |
LINE1 300Â bp | CRC | NA | qPCR | 503 | Plasma | [21] | ||
Breast | NA | qPCR | 293 (100) | Plasma | [19] | |||
47 | MDG1 | MDG1 | CRC | Methylation | PCR | 30 (30) | Plasma | [98] |
48 | Microsatellite alterations | FHIT LoH | Lung | NA | PCR | 87 (14) | Plasma | [104] |
FHIT LoH | Lung | NA | PCR | 32 (10) | Serum | [105] | ||
LoH | Oesophageal | NA | PCR | 18 (22) | Plasma | [106] | ||
LoH | CRC | NA | qPCR | 33 | Serum | [53] | ||
3p LoH | Lung | NA | qPCR | 64 | Plasma | [107] | ||
49 | mitochondrial DNA | mtDNA | Breast | NA | qPCR | 60 (51) | Plasma | [108] |
50 | MLH1 | hMLH1 | Breast | Methylation | qPCR | 253 (434) | Serum | [99] |
51 | MYC | MYC | Neuroblastoma | Amplification | ddPCR | 44 | Plasma | [42] |
52 | MYF3 | MYF3 | Pancreatic | Methylation | qPCR | 30 (30) | Plasma | [86] |
53 | MYLK | MYLK | Gastric | Methylation | qPCR | 58 (30) | Serum | [85] |
54 | O(6)-methyl-guanine-DNA methyltransferase | MGMT | Lung | Methylation | qPCR | 76 | Serum | [62] |
CRC | Methylation | qPCR | 33 | Serum | [53] | |||
Breast | Methylation | qPCR | 89 | Serum | [79] | |||
55 | OPCML | OPCML | Ovarian | Methylation | qPCR | 87 (62) | Serum | [67] |
56 | P14 ARF tumor suppressor protein gene | P14 | Testicular | Methylation | qPCR | 73 (35) | Serum | [47] |
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
57 | P16 cyclin-dependent kinase inhibitor 2A | P16, CDKN2A | Testicular | Methylation | qPCR | 73 (35) | Serum | [47] |
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
Lung | Methylation | qPCR | 63 (36) | Plasma | [74] | |||
Breast | Methylation | qPCR | 253 (434) | Serum | [99] | |||
HNSCC | Methylation | qPCR | 40 (41) | Serum | [87] | |||
58 | P21 | P21 | Breast | Methylation | qPCR | 36 (30) | Plasma | [69] |
59 | P53 | Â | Various | Mutation | qPCR | 20 (16) | Plasma | [109] |
Various | NA | qPCR | 120 (120) | Plasma | [110] | |||
CRC | Mutation | qPCR | 191 | Plasma | [65] | |||
CRC | Mutation | PCR | 104 | Serum | [66] | |||
SCLC | Mutation | qPCR | 51 (123) | Plasma | [55] | |||
60 | PCDHGB7 | PCDHGB7 | Breast | Methylation | qPCR | 253 (434) | Serum | [99] |
61 | Peptidylprolyl isomerase A | cyclophilin A, gCYC, PPIA | CRC | NA | qPCR | 229 (100) | Plasma | [102] |
62 | PIK3CA | PIK3CA | Breast | Mutation | qPCR | 76 | Both | [18] |
Lung | Mutation | NGS | 68 (107) | Plasma | [75] | |||
CRC | Mutation | BEAMing | 503 | Plasma | [21] | |||
CRC | Mutation | qPCR | 191 | Plasma | [65] | |||
63 | Prostaglandin-endoperoxid synthase 2 | PTGS2 | Renal | Methylation | PCR | 35 (54) | Serum | [68] |
Testicular | Methylation | qPCR | 73 (35) | Serum | [47] | |||
64 | Protocadherin 10 | PCDH10 | CRC | Methylation | qPCR | 67 | Plasma | [111] |
65 | Retinoid-acid-receptor-beta gene | RARbeta2 | Breast | Methylation | PCR | 20 (25) | Plasma | [112] |
CRC | Methylation | qPCR | 33 | Serum | [53] | |||
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
Lung | Methylation | qPCR | 63 (36) | Plasma | [74] | |||
66 | RASSF1A | RASSF1A | Breast | Methylation | PCR | 93 (76) | Plasma | [113] |
Breast | Methylation | PCR | 20 (25) | Plasma | [112] | |||
Breast | Methylation | qPCR | 39 (49) | Plasma | [22] | |||
Breast | Methylation | qPCR | 604 (59) | Serum | [90] | |||
Melanoma | Methylation | qPCR | 84 (68) | Plasma | [114] | |||
Lung | Methylation | qPCR | 76 (30) | Serum | [62] | |||
Testicular | Methylation | qPCR | 73 (35) | Serum | [47] | |||
CRC | Methylation | qPCR | 33 | Serum | [53] | |||
Ovarian | Methylation | qPCR | 87 (62) | Serum | [67] | |||
Renal | Methylation | PCR | 35 (54) | Serum | [68] | |||
Lung | Methylation | qPCR | 63 (36) | Plasma | [74] | |||
Lung | Methylation | qPCR | 110 (50) | Plasma | [70] | |||
HCC | Methylation | PCR | 40 (20) | Serum | ||||
HCC | Methylation | PCR | 50 (50) | Serum | [117] | |||
Renal | Methylation | PCR | 27 (15) | Plasma | [71] | |||
Breast | Methylation | qPCR | 253 (434) | Serum | [99] | |||
CRC | Methylation | PCR | 30 (30) | Plasma | [98] | |||
Renal | Methylation | qPCR | 157 (43) | Serum | [118] | |||
Ovarian | Methylation | PCR | 50 | Serum | [80] | |||
Ovarian | Methylation | PCR | 30 (30) | Plasma | [82] | |||
67 | RUNX3 | RUNX3 | Ovarian | Methylation | PCR | 87 (62) | Serum | [67] |
68 | Septin 9 | Septin 9 | CRC | Methylation | qPCR | 97 (172) | Plasma | [119] |
CRC | Methylation | qPCR | 378 (285) | Plasma | [120] | |||
CRC | Methylation | qPCR | 60 (24) | Plasma | [121] | |||
CRC | Methylation | qPCR | 55 (1457) | Plasma | [58] | |||
Lung | Methylation | qPCR | 70 (100) | Plasma | [122] | |||
CRC | Methylation | qPCR | 135 (341) | Plasma | [123] | |||
CRC | Methylation | qPCR | 50 (94) | Plasma | [124] | |||
CRC | Methylation | qPCR | 44 (444) | Plasma | [59] | |||
69 | SFN | SFN | Breast | Methylation | qPCR | 253 (434) | Serum | [99] |
70 | SFRP5 | SFRP5 | Ovarian | Methylation | qPCR | 87 (62) | Serum | [67] |
71 | SHOX2 | SHOX2 | Lung | Methylation | qPCR | 188 (155) | Plasma | [125] |
Lung | Methylation | qPCR | 118 (212 | Plasma | [126] | |||
72 | SOX17 | SOX17 | Breast | Methylation | qPCR | 114 (60) | Plasma | [127] |
Various | Methylation | qPCR | 150(60) | Plasma | [83] | |||
73 | SLC26A4 | SLC26A4 | Thyroid | Methylation | qPCR | 176 (19) | Plasma | [24] |
74 | SLC5A8 | SLC5A8 SLC26A4 | Thyroid | Methylation | qPCR | 176 (19) | Plasma | [24] |
75 | SRBC | SRBC | Pancreatic | Methylation | qPCR | 30 (30) | Plasma | [86] |
76 | TAC1 | TAC1 | Various | Methylation | qPCR | 150 (60) | Plasma | [83] |
77 | human telomerase reverse transcriptase DNA | hTERT | CRC | NA | qPCR | 35 (135) | Plasma | [30] |
HCC | NA | qPCR | 70 (30) | Plasma | [31] | |||
HCC | NA | qPCR | 60 (29) | Plasma | [32] | |||
HNSCC | NA | qPCR | 200 | Plasma | [33] | |||
78 | TFPI2 | TFPI2 | Ovarian | Methylation | PCR | 87 (62) | Serum | [67] |
79 | THBD-M | THBD-M | CRC | Methylation | qPCR | 107 (98) | Plasma & Serum | [128] |
80 | TIMP3 | TIMP3 | Renal | Methylation | PCR | 35 (54) | Serum | [68] |
Breast | Methylation | qPCR | 36 (30) | Plasma | [69] | |||
81 | TMS | TMS | Pancreatic | Methylation | qPCR | 30 (30) | Plasma | [86] |
82 | UCHL1 | UCHL1 | HNSCC | Methylation | PCR | 40 (41) | Serum | [87] |
83 | Von Hippel Lindau gene | VHL | CRC | Methylation | qPCR | 30 (30) | Plasma | [86] |
Pancreatic | Methylation | qPCR | 30 (30) | Plasma | [86] | |||
Renal | Methylation | qPCR | 157 (43) | Serum | [118] | |||
84 | ZFP42 | ZFP42 | Various | Methylation | qPCR | 150 (60) | Plasma | [83] |