Table 3. . Genome-wide association studies and epigenome-wide association studies conducted in gynecological cancers.
Cancer type | EWAS | Mutations and susceptibility loci | SNPs and copy number variations |
---|---|---|---|
Cervical cancer |
Methylation profiling [31] Genome-wide histone profiling [34] Late genes L1 and L2 and the host gene DAPK showed progressive methylation corresponding with disease advancement [31] Increased histone alterations (mainly H3K36me3 and H3K9Ac) in the HPV genome correlated with increased HPV16 gene expression [34] |
Chromosomal loss at 3p11-p14 contribute to cancer development [32] PIK3CA and p53 mutations in adenocarcinoma, squamous cell carcinoma, and high-grade intraepithelial neoplasia of cervix [35] |
Copy number gain (CNG) at chromosome 3q26 (spans from q26 to q29) containing 200 protein coding genes including SOX2, ECT2, PRKCI and PI3KCA [33] Deletion of Xq24 encoding a mitochondrial transporter protein [35,36] Copy number gain at 3q, 1q, 19q and loss at 11q, 4q and 13q [37] |
Ovarian cancer | Genome-wide methylation analysis identified RUNX3 and CAMK2N1 hypermethylation as prognostic markers for serous ovarian cancer [38] 12 loci associated with serous epithelial ovarian cancer [41] Several loci [22,40] Identified HOXB2, HOXB5, HOXB6, HOXB7 at 17q21.32 and HOXD1, HOXD3 at 2q31 [41] |
Mutations in RAS/RAF/ERBB2 in 82% cases in genome-wide analysis [39] A wide spectrum of new BRCA1/2 mutations [42] |
Polymorphism rs2072590 (HOXD-AS1), rs2665390 (TIPARP), rs10088218 and rs10098821 (8q24), rs3814113 (9p22), rs9303542 (SKAP1) and rs2363956 (ANKLE1) for epithelial ovarian cancer in Polish population [22,40] |
EWAS: Epigenome-wide association studies; SNP: Single nucleotide polymorphism.