Table 1.
References | Country | Cancer Type | Sources | Cancer/Control | Abnormalities | Methodology | Clinical Relevance |
---|---|---|---|---|---|---|---|
Shao et al34 | China | OC | Serum | 36/41 | Level | bDNA technique | Diagnosis |
Kamat et al35 | USA | OC | Plasma | 164/124 | Level | RT-PCR | Diagnosis |
Kamat et al36 | USA | OC | Plasma | 19/12 | Level | RT-PCR | Diagnosis |
Zachariah et al37 | Switzerland | OC | Serum/plasma | 21/83 | Level | RT-PCR | Diagnosis |
Dobrzycka et al38 | Poland | OC | Plasma | 126/NA | Level/KRAS mutation | PCR-RFLP | Diagnosis/prognosis |
Cicchillitti et al39 | Italy | EC | seRum | 59/NA | Level | RT-PCR | Diagnosis |
Dobrzycka et al40 | Poland | EC | Plasma | 109/NA | Level | PCR-RFLP | Diagnosis |
Vizza et al41 | Italy | EC | Serum | 60/NA | Level | RT-PCR | Diagnosis |
Tanaka et al42 | Japan | EC | Plasma | 53/24 | Level | RT-PCR | Diagnosis/prognosis |
Hickey et al43 | United Kingdom | OC | Serum | 20/NA | Mutations, LOH and MI | PCR | Diagnosis |
Otsuka et al46 | Japan | OC | Plasma | 27/NA | p53 mutation | PCR | Diagnosis/prognosis |
Park et al47 | Korea | OC | Plasma | 4/NA | TP53 mutation | Digital PCR | Diagnosis |
Cohen et al49 | Australia | OC | Plasma | 32/32 | Chromosomal instability | Whole genome NIPT platform | Diagnosis |
Vanderstichele et al50 | Belgium | OC | Plasma | 57/11 | Chromosomal instability | NGS | Diagnosis |
Phallen et al51 | USA | OC | Plasma | 42/NA | Somatic mutations | TEC-Seq | Diagnosis |
Farkkila et al52 | Finland | OC | Plasma | 35/NA | FOXL2 mutation | ddPCR | Diagnosis/prognosis |
Sun et al53 | China | EC | PBLs | 139/139 | mtDNA copy number value | RT-PCR | Diagnosis |
Giannopoulou et al56 | Greece | OC | Plasma | 59/NA | RASSF1A methylation | MSP technique | Diagnosis |
Zhang et al57 | China | OC | Serum | 87/115 | (APC, RASSF1A, CDH1, RUNX3, TFPI2, SFRP5, OPCML) methylation | MSP technique | Diagnosis |
Liggett et al58 | USA | OC | Plasma | 30/60 | (RASSF1A, CALCA, EP300, BRCA1, CDKN1C, PGR-PROX) methylation | MethDet 56 | Diagnosis |
Melnikov et al59 | USA | OC | Plasma | 33/33 | (BRCA1, HIC1, PAX5, PGR, THBS1) methylation | MethDet 56 | Diagnosis |
Widschwendter et al60 | UK | OC | Serum | 25/598 | (COL23A1, C2CD4D, WNT6) methylation | NGS | Diagnosis/prognosis |
Li et al61 | China | OC | Peripheral blood | 206/205 | Methylation at multiple sites | NGS | Diagnosis |
Wu et al62 | China | OC | Plasma | 47/24 | RASSF2A methylation | MSP technique | Diagnosis |
Ibanez et al63 | USA | OC | Serum/plasma | 50/NA | (BRCA1, RASSF1A) methylation | MSP technique | Diagnosis |
Margolin et al67 | USA | EC | A computational simulation | 42/8 | ZNF154 methylation | NGS | Diagnosis |
Wimberger et al71 | Germany | OC | plasma | 62/28 | Level | RT-PCR | prognosis |
Perkins et al72 | United Kingdom | OC | Plasma | 105/20 | Level/mutations in 19 genes | NGS | Prognosis |
Steffensen et al73 | Denmark | OC | Plasma | 144/NA | Level | RT-PCR | Prognosis |
No et al74 | Korea | OC | Plasma | 36/16 | (B2M, RAB25, CLDN4, ABCF2) mutation |
RT-PCR | Prognosis |
Kuhlmann et al75 | Germany | OC | Serum | 63/20 | Level/LOH | Fluorescence-labeled PCR | Prognosis |
Swisher et al48 | USA | OC | Plasma/serum | 137/NA | p53 mutation | DNA sequencing | Prognosis |
Giannopoulou et al76 | Greece | OC | Plasma | 129/NA | ESR1 methylation | MSP technique | Prognosis |
Bolivar et al70 | USA | EC | Plasma | 48/NA | (CTNNB1, KRAS, PTEN, PIK3CA) mutation | NGS | Prognosis |
Harris et al77 | USA | OC | Plasma | 8/NA | Chromosomal junctions | Quantitative PCR | Prognosis |
Pereira et al78 | USA | OC and EC | Serum | 22OC,17EC/NA | Level | Digital PCR | Prognosis |
Du et al79 | China | OC | Plasma | 21/NA | Mutations/CNV | NGS | Prognosis |
Martignetti et al80 | USA | OC | Plasma/serum | 1/NA | FGFR fusions | NGS/RT-PCR | Prognosis |
Choudhuri et al82 | India | OC | Plasma | 100/NA | Level | RT-PCR | Treatment response |
Capizzi et al83 | Italy | OC | Plasma | 22/NA | Level | RT-PCR | Treatment response |
Arend et al84 | USA | OC | plasma | 14/NA | level | NGS | Treatment response |
Kamat et al69 | USA | OC in mice | Plasma | – | Level | RT-PCR | Treatment response |
Parkinson et al68 | United Kingdom | OC | Plasma | 40/NA | TP53 mutation | Digital PCR | Treatment response |
Gifford et al85 | United Kingdom | OC | Plasma | 138/NA | hMLH1 methylation | Microsatellite PCR | Treatment response |
Flanagan et al86 | United Kingdom | OC | Peripheral blood | 247/NA | Methylation at CpG sites | NGS | Treatment response |
Matulonis et al90 | USA | OC | Plasma | 67/NA | Mutations in components/modulators of the PI3K pathway | NGS/Sanger sequencing | Treatment response |
Weigelt et al87 | USA | OC | Plasma | 19/NA | BRCA reversion mutation | NGS | Treatment response |
Christie et al88 | Australia | OC | Plasma | 30/NA | BRCA reversion mutation | NGS | Treatment response |
Lin et al89 | USA | OC | Plasma | 209/NA | BRCA reversion mutation | NGS | Treatment response |
Abbreviations: OC, ovarian cancer; EC, endometrial cancer; bDNA, branched DNA; PCR-RFLP, PCR-restriction fragment length polymorphism; LOH, loss of heterozygosity; MI, microsatellite instability; NGS, next-generation sequencing; mtDNA, mitochondrial DNA; ddPCR, digital droplet PCR; PBLs, peripheral blood leukocytes; MSP, methylation-specific PCR; CNV, copy number variation; NK, do not know.