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Potential Candidate Gene in Underlying Molecular Mechanism Involving in Tumorigenesis of Endometriosis-associated Ovarian Cancer (EAOC) in Asian Populations
* 1 , 2 , 3
1  Taipei medical university
2  Ph.D. in Translational Medicine and International Ph.D. Program in Translational Sciences, Taipei Medical University,
3  The Ph.D. Program for Translational Medicine and International Ph.D. Program for Translational Science, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan
Academic Editor: Carlos Moreno


Molecular aberrations in Endometriosis were known to be associated with an increased risk of epithelial ovarian cancer (EOCs), especially endometrioid ovarian cancer (ENOC) and ovarian clear cell carcinoma (OCCC). Causal genetic evidence currently remains elusive. The integrated study of related prognostic markers will help to identify the tumorigenesis pathways in endometriosis-associated ovarian cancer (EAOC). The objective of this study was to gain a better understanding of the tumorigenesis mechanisms that occur in the endometriosis-associated genetic variation-progressed ovarian cancer risk. We found 172 overlapping genes that changed both at the DNA and RNA levels from the literature summary of whole exome sequencing and RNA expression from GEO databases. Furthermore, we use KEGG pathways to determine a significant pathway among the gene variants. KEGG includes 50 genes that have significant enrichment pathways. In order to find genes that are specifically expressed in ovary tissue, we prioritize genes using the GTEx database. Based on their TPKM levels, we found 7 genes that were highly expressed in ovary tissue. The genes found were COL12A1, PDGFRA, C7, MYH11, MMP2, C3, and FOS. Interestingly, MYH11 was found in each sample histotype and involved in the role of the actin cytoskeleton. Several proteins influence the migratory and metastatic phenotype of tumor cells, directly or indirectly, as well as myosin protein, suggesting an explanation of tumorigenesis progression in endometriosis to ovarian cancer. Through this analysis, it has attempted to provide variants fortified for future in vivo research through this analysis. More importantly, a comprehensive study of endometriosis-associated diseases associated with ovarian cancer may open new possibilities for identifying and treating these diseases.

Keywords: Endometriosis; ovarian clear cell carcinoma; endometrioid ovarian carcinoma; tumorigenesis; exome; gene expression.