Review Article

Potential Markers for Detection and Monitoring of Ovarian Cancer

Table 2

Characteristics of major ovarian cancer genetic and epigenetic markers across various key studies.

Epigenetic markerLocationSample sizeCause of over and underexpressionType of changePercentage (%) of cases foundStage of ovarian cancerType of ovarian cancerCommentsReference

BRCA117q21(1) 98M/12H
(2) 50M
(1) Epigenetic
(2) Epigenetic
(1) Hypermethylation
(2) Hypermethylation
(1) 12%
(2) 16%
(2) Early and late stage(1) Serous
(2) No difference noted
(1) [47]
(2) [17]
ARHI1p31(1) 38M/3C(1) Epigenetic(1) LOH(1) 41%(1) Not provided(1) Not provided(1) [48]
OPCML11q25(1) 118M(1) Epigenetic(1) Hypermethylation/
LOH
(1) 27–49%(1) No difference noted(1) Not provided(1) [49]
Metastasis-related gene synuclein-gamma (SNCG)10q23(1) 5C
(2) 43M
(1) Epigenetic
(2) Epigenetic
(1) Hypomethylation
(2) Hypomethylation
(1) 100%
(2) 76.7%
(1) Not provided
(2) No differences noted
(1) Not provided
(2) No differences noted
(1) Reexpressed genetic expression in aggressive ovarian cancer lines
(2) Expressed in a large portion of malignant tumors
(1) [50]
(2) [51]
Satellite 2 DNA (Sat2)—chromosome 1 (Chr1), satellite alpha (Satα)Near centromeres of chromosomes 1 and 16(1) 115M/26B(1) Epigenetic(1) Hypomethylation(1) 30% (Chr1 Sat2), 33% (Chr1 Satα)(1) Late stage(1) Serous, endometrioid(1) More pravelent in high-grade tumors(1) [52]
RASSF1A3p21.3(1) 50M(1) Epigenetic, genetic(1) Hypermethylation(1) 50%, 68%*(1) Early and late stage(1) Serous, endometrioid, clear cellGenetic cause: deletion(1) [53]
Insulin-like growth factor binding protein 3 (IGFBP-3)7p13-p12(1) 235M(1) Epigenetic(1) Hyper/promoter methylation(1) 44%(1) Early and late stage(1) No difference noted(1) Significant higher levels of methylation within early-stage disease and association with overall survival(1) [54]
14-3-3sigma (SFN)1p36.11(1) 54M/3C(1) Epigenetic(1) Hypermethylation(1) 78.6% (clear cell), 36.4% (mucinous), 20% (endometrioid), 26.3% (serous)(1) Not provided(1) Mostly clear cell(1) Significantly related to the pathologic type of ovarian cancer(1) [55]
DNAJ (MCJ)13q14.1(1) 41M (stage III/IV)(1) Epigenetic(1) Hypomethylation(1) 93%—some level of methylation, 17%—high level of methylation(1) Late stage(1) Not provided(1) High levels of CpG island methylation correlated significantly with poor response of patients’ tumors to therapy and poor overall survival(1) [56]
P5317q13(1) 70M(1) Genetic(1) Allelic loss and mutations(1) 31–39%(1) Not provided Usually seen in advanced stage#(1) Mostly serous(1) [57]
ARID1a1p35.1(1) 119M (clear cell)/33M (endometrioid)
(2) 42M
(1) Epigenetic
(2) Epigenetic
(1) Allele mutation
(2) Allele mutation
(1) 46% (clear cell), 30% (endometrioid)
(2) 57%
(1) Not provided
(2) Not provided
(1) Clear cell, endometrioid
(2) Clear cell
(1) Correlated with loss of BAF250a protein
(2) 7% of cases showed mutations in PPP2R1A gene
(1) [58]
(2) [59]

M: cases of ovarian cancer, B: benign ovarian cancer, C: ovarian cancer cell lines, H: healthy individuals, LOH: loss of heterozygosity.
*When combined with BRCA1.
[60].
#[61].