Genetic Links between Endometriosis and Endometriosis-Associated Ovarian Cancer—A Narrative Review (Endometriosis-Associated Cancer)

Tanja Pejovic, Ann M. Cathcart, Rofieda Alwaqfi, Marjorie N. Brooks, Rachel Kelsall, Farr R. Nezhat

Research output: Contribution to journalReview articlepeer-review


Endometriosis is a frequent, estrogen-dependent, chronic disease, characterized by the presence of endometrial glands and stroma outside of the uterine cavity. Although it is not considered a precursor of cancer, endometriosis is associated with ovarian cancer. In this review, we summarized the evidence that clear-cell and endometrioid ovarian carcinomas (endometriosis-associated ovarian carcinoma—EAOC) may arise in endometriosis. The most frequent genomic alterations in these carcinomas are mutations in the AT-rich interaction domain containing protein 1A (ARID1A) gene, a subunit of the SWI/SNF chromatin remodeling complex, and alterations in phosphatidylinositol 3-kinase (PI3K) which frequently coexist. Recent studies have also suggested the simultaneous role of the PTEN tumor-suppressor gene in the early malignant transformation of endometriosis and the contribution of deficient MMR (mismatch repair) protein status in the pathogenesis of EAOC. In addition to activating and inactivating mutations in cancer driver genes, the complex pathogenesis of EAOC involves multiple other mechanisms such as the modulation of cancer driver genes via the transcriptional and post-translational (miRNA) modulation of cancer driver genes and the interplay with the inflammatory tissue microenvironment. This knowledge is being translated into the clinical management of endometriosis and EAOC. This includes the identification of the new biomarkers predictive of the risk of endometriosis and cancer, and it will shape the precision oncology treatment of EAOC.

Original languageEnglish
Article number704
Issue number6
StatePublished - Jun 2024
Externally publishedYes


  • ARD1A
  • cancer
  • clear-cell carcinoma
  • endometrioid adenocarcinoma
  • endometriosis
  • ovarian cancer

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