Table 6.
Epigenetic biomarkers for ovarian cancer detection.
| Epigenetic marker | Source | Sensitivity /specificity | Technique | References |
|---|---|---|---|---|
| GTF2A1 and HAAO | Tumor tissue | Presence of malignancy 95/88%; 89/82% |
qMSP | Huang et al., 2009 |
| HOXA9 and SCGB3A1 | Tumor tissue | Early stage carcinoma (18/24, p = 0.002) (5/25, p = 0.020) |
MSP | Wu et al., 2007 |
| RASSF1A and HIC1 | Tumor tissue | Early stage ovarian carcinomas 34/100, 2/68, OR = 0.3 34/100, 10/68, OR = 0.4 |
MSP | Feng Q. et al., 2008 |
| RASSF1A, GSTP1, MGMT, APC | Tumor tissue | Presence of invasive tumors RASSF1A: 30% vs. 0%; GSTP1: 9% vs. 0%; MGMT: 9% vs. 0%; APC:22% vs. 0%; |
MSP | Barton et al., 2008 |
| SPARC | Tumor tissue | Association with tumor gradeMethylation frequency: 68% | MSP | Socha et al., 2009 |
| CDH13, CRABP1, HOXA9, and SCGB3A1 | Tumor tissue | Histological subtype differentiation CDH13, CRABP1, HOXA9 and SCGB3A1 (P = 0.041, P <0.001, P = 0.007, P <0.001) |
MSP | Wu et al., 2007 |
| CTGF | Tumor tissue | Inversely correlated with invasive disease | cDNA microarray analysis | Barbolina et al., 2009 |
| CCBE1 | Tumor tissue | Inversely correlated with metastasis 6/11 (55%) in OC cell lines 38/81 (41%) OC tumors. |
Small-interfering RNA (siRNA)-mediated knockdown | Barton et al., 2010 |
| HIC1 | Tumor tissue | Presence of malignancy Methylation frequency: 35% |
MSP | Rathi et al., 2002 |
| CDH1 | Tumor tissue | Inversely correlated with metastasis | Small-interfering RNA (siRNA)-mediated knockdown | Sawada et al., 2008 |
| SFN, TMS1, and WTI | Tumor tissue | Methylation exclusive for Clear cell subtype | MSP | Barton et al., 2008 |
| hMLH1, CDKN2A, and MGMT | Matched tumors | Associated with development of Synchronous endometrial and ovarian cancer Methylation frequency: 39, 41, and 48% |
MSP | Furlan, 2006 |
| 14–3-3s | Tumor tissue | Advanced stage ovarian carcinomas | MSP, quantitative reverse transcription-PCR | Akahira et al., 2004b |
| HOXA11 | Tumor tissue | Presence of malignancy, Suboptimal tumor debulking and poor outcome (relative risk for death = 3.4) | MethyLight assay | Fiegl et al., 2008 |
| 10 gene panel | Tumor tissue | Presence of serous adenocarcinoma (69.4% sensitivity and 70.2% specificity) | Microarray Mediated Methylation Assay (MethDet test) | Melnikov et al., 2009 |
| Polycomb group target genes in particular HOXA9 | Normal endometrium | Hoxa9 hypermethylation association with increased risk (12.3 fold) of ovarian cancer | MethyLight assay | Widschwendter et al., 2009 |
| SNCG, MASPIN, and CLDN4 | Tumor tissue | Advanced stage ovarian carcinomas | Small-interfering RNA (siRNA)-mediated knockdown, qRT-PCR | Gupta et al., 2003; Rose et al., 2006; Choi et al., 2007; Honda et al., 2007 |
| PCDH17 | Tumor tissue | Presence of malignancy | Next-generation sequencing, Methylation-sensitive high-resolution melting Analysis |
Baranova et al., 2018 |
| EGFL7 and RASSF1 | Tumor tissue | Early stage disease detection and progression | DNA methylation microarray assay, Bisulfite pyrosequencing | Rattanapan et al., 2018 |
| LDOC1 | Ovarian cancer cell line | Early stage disease detection | RT-PCR and real-time PCR | Buchholtz et al., 2014 |
| GPR150, ITGA8, and HOXD11 | Ovarian cancer cell line | Tumor marker | Methylation-sensitive-representational difference analysis (MS-RDA) and MSP | Cai et al., 2007 |
| TGFBI | Tumor tissue and ovarian cancer cell line | Presence of malignancy | Real-time RT-PCR, MS-PCR, and bisulfite sequencing | Kang et al., 2010 |
| DAPK1 and SOX1 | Tumor tissue | Early stage disease | MethyLight | Kaur et al., 2016 |
| BORIS | Tumor tissue | Presence of malignancy | qRT-PCR | Woloszynska-Read et al., 2007 |
| long-intergenic non-coding RNA (lincRNA) gene (LOC134466) | Tumor tissue and ovarian cancer cell line | Potential novel diagnostic biomarker for high grade (Type II) serous ovarian carcinoma (HGSOC) | MeDIP-Chip and Sequenom massARRAY methylation analysis | Gloss et al., 2012 |