Genome-wide association study of recurrent endometriosis related with ovarian cancer

Abstract

Purpose: Endometriosis is a painful and chronic gynecological disease affecting approximately 10% of reproductive-age women and has an increasing rate of recurrence. However, studies of recurrent endometriosis are lacking. Ovarian cancer is related to recurrent endometriosis. In this study, the authors' objectives were to determine whether DNA mutations or variants observed in endometriosis are involved in recurrence and whether genome-wide sequences in recurrent endometriosis tissues are related to DNA mutation patterns of known ovarian cancer cluster genes. Materials and Methods: The authors collected two recurrent endometriosis tissue samples in which the patients had severe endometriosis with greater than revised American Society for Reproductive Medicine (rASRM) classification stage 3. They then conducted target next-generation sequencing (NGS). A library was constructed, and the data were compared to those from a comprehensive cancer panel (CCP). Results: The bioinformatics analysis revealed 39 gene mutations with significant frequency in the two recurrent endometriosis samples. However, the DNA mutations associated with recurrent endometriosis differed from the CCP variants. Discussion: The genes identified herein are associated with DNA repair, transcription, fibrosis, and proliferation in the endometrium and ovary-induced endometriosis or ovarian carcinoma.