Whole exome study of somatic mutations as the basis for the development of endometriosis

The project aims to investigate the mechanism of the development of endometriosis - a common disease of women causing pain, infertility and sometimes leading to the development of ovarian cancer. In the course of the disease, endometrioid epithelial tissue develops ectopic, most often in the peritoneal cavity. The most widely recognized theory of disease development postulates that foci of ectopic endometrioid tissue originate in the eutopic endometrium, but many aspects of the disease remain unexplained. One of the unconfirmed hypotheses is the accumulation of somatic mutations in eutopic endometrial epithelial cells. It has been proven that in the course of endometrial cancer of the ovary there is microdeletion in the cells of endometriotic foci, which then give rise to the tumor, while in endometriotic lesions not related to cancer, no such microdeletions were found. In the proposed project, it is planned to study the sequences of exomalous tissues from women suffering from endometriosis and from healthy women. Based on the analysis of the obtained mutation pattern, we plan to determine whether there are somatic mutations in the ectopic endometrium that may be the cause of ectopic changes.