Genetics of endometriosis and its association with ovarian cancer

In: Gynecology and Obstetrics Clinical Medicine · 2021 · vol. 1(4) , pp. 177–185 · doi:10.1016/j.gocm.2021.09.001 · W3210001911
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AI-generated summary by claude@2026-06, 2026-06-09

This paper reviews current data on genetic phenomena and molecular changes in endometriosis, focusing on gene mutations shared with malignancies and the potential for uterine cells to migrate and cause endometriosis-associated ovarian cancer.

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Abstract

Abstract Endometriosis is a chronic and destructive developmental gynecologic condition that affects approximately 10% percent of females worldwide, and is one of the most frequent causes of extreme pelvic pain. The endometrium-like tissue, glands, and stroma outside the uterine cavity are often affected by endometriosis. It is estrogen-dependent and frequently affects the ovaries, fallopian tubes, and pelvic peritoneum. Symptoms such as chronic pelvic pain, infertility, dyspareunia, as well as digestive and urinary symptoms often accompany endometriosis. The overall condition shares characteristics with ovarian carcinoma such as enhanced vascular activation of the endothelial growth factor, local invasion, lymph angiogenesis, neoangiogenic, mechanism tolerance to apoptosis, and genome instability. Genetic studies have shown that endometriotic lesions contain gene mutations related directly to malignancies, particularly the ARID1A, p53, KRAS , and PTEN genes. However, women with endometriosis have a lower risk of ovarian cancer than the general population, where endometriosis was seen in only 1.3%, and did not diagnose ovarian cancer progression among them. We need to look into the connection between endometriosis and uterine carcinomas, as well as the common lesions and correlations in the uterine microenvironment, which may play a role in mutations and malignant exchanges. Although endometriosis is a risk factor of ovarian cancer, malignant cells from the uterus can migrate to the ovary and cause endometriosis-related ovarian cancer. The purpose of this article is to examine current data on genetic phenomena and molecular changes for endometriosis associated with ovarian cancer, focusing primarily on the proliferation of uterine and precise cell biomarkers.

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Condition tags

endometriosischronic_pelvic_paindyspareuniainfertility

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