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. 2020 Dec 17;15(12):e0244101. doi: 10.1371/journal.pone.0244101

Table 1. Diagnostic value of DNA methylation in plasma or serum.

Gene Name Cases/controls Concordance rate between methylation in tumor and blood Anatomical site Stage Specimen Sensitivity Specificity AUC Method Reference
CDH1 Cadherin 1 62/320 All NA Serum 32% 73% 0.53 qMSPb Carvalho et al. [34] (2008)
CCND2 Cyclin D2 47/284 All NA Serum 6% 98% 0.52 qMSPb Carvalho et al. [34] (2008)
TGFBR2 Transforming Growth Factor Beta Receptor 2 37/134 All NA Serum 8% 94% 0.51 qMSPb Carvalho et al. [34] (2008)
TIMP3 TIMP Metallopeptidase Inhibitor 3 50/296 All NA Serum 10% 95% 0.52 qMSPb Carvalho et al. [34] (2008)
HIC1 Hypermethylated in Cancer 1 70/373 All NA Serum 31% 93% 0.62 qMSPb Carvalho et al. [34] (2008)
PGP9.5 Neuron Cytoplasmatic Protein 9.5 52/203 All NA Serum 8% 98% 0.53 qMSPb Carvalho et al. [34] (2008)
SEPT91 Septin 9 137/170 - All All Plasma 62% 92% 0.79 quasi-digital PCR De Vos et al. [38] (2017)
SHOX21 Short Stature Homeobox 2 137/170 - All All Plasma 53% 87% 0.78 quasi-digital PCR De Vos et al. [38] (2017)
SEPT92 Septin 9 141/102 - All All Plasma 55% 90% 0.75 quasi-digital PCR De Vos et al. [38] (2017)
SHOX22 Short Stature Homeobox 2 141/102 - All All Plasma 43% 95% 0.77 quasi-digital PCR De Vos et al. [38] (2017)
EDNRB Endothelin Receptor Type B 100/50 - All All Serum 10% 100% qMSPb Mydlarz et al. [35] (2016)
DCC Deleted in Colo-rectal Cancer 100/50 - All All Serum 2% 100% qMSPb Mydlarz et al. [35] (2016)
CDKN2A Cyklin-Dependent Kinase Inhibitor 2A 100/50 - All All Serum 1% 100% qMSPb Mydlarz et al. [35] (2016)
CDKN2A Cyklin-Dependent Kinase Inhibitor 2A 17/8 65% Oral All Serum 35% 100% MSPa Nakahara et al. [39] (2005)
CDKN2A Cyklin-Dependent Kinase Inhibitor 2A 50/0 27% All All Serum 4% - MSPa Sanchez-Cespedes et al. [40] (2000)
MGMT O6-Methylguanine-DNA-Methyltransferase 50/0 33% All All Serum 7% - MSPa Sanchez-Cespedes et al. [40] (2000)
DAPK Death-Associated Protein Kinase 50/0 18% All All Serum 2% - MSPa Sanchez-Cespedes et al. [40] (2000)
GSTP1 Glutathione S-transferase p1 50/0 0% All All Serum 0% - MSPa Sanchez-Cespedes et al. [40] (2000)
SHOX21 Short Stature Homeobox 2 137/122 - All All Plasma 50% 95% 0.80 qPCR Schröck et al. [37] (2017)
SEPT91 Septin 9 137/122 - All All Plasma 57% 95% 0.79 qPCR Schröck et al. [37] (2017)
SHOX22 Short Stature Homeobox 2 141/102 - All All Plasma 0.79 qPCR Schröck et al. [37] (2017)
SEPT92 Septin 9 141/102 - All All Plasma 0.74 qPCR Schröck et al. [37] (2017)
CDKN2A Cyklin-Dependent Kinase Inhibitor 2A 20/24 49% All All Plasma 65% (13/20) 67% (16/24) Real time PCR Wong et al. [36] (2003)
CDKN2B Cyklin-Dependent Kinase Inhibitor 2B 20/24 60% All All Plasma 60% (12/20) 50% (12/24) Real time PCR Wong et al. [36] (2003)

a: Methylation specific PCR.

b: Quantitative methylation specific PCR.

c: Combined bisulfite restriction analysis.

1: Training Cohort.

2: Testing cohort.

*The test is between OSCC and OP. No healthy controls.