Groundbreaking discovery uncovers key to understanding endometriosis

New Ovarian Cancer Gene: A Connection Between Cancer and Endometriosis

Research reveals a major new cancer gene – ARID1A. Mutations are frequent in this gene and link two types of ovarian cancer to endometriosis. OVCARE’s discovery of the dominant mutation in clear cell ovarian cancer raises hope for much needed treatments for this little understood cancer type.

Vancouver – A new research breakthrough is offering a pathway to improve the management of endometriosis.

Endometriosis is a gynecological disorder affecting one in 10 women of reproductive age where tissue that normally lines the inside of the uterus grows outside of the uterus. This can have life-changing effects including severe menstrual cramps, sexual pain, and infertility. The condition is frequently left undiagnosed and untreated, with research showing that many women wait five to 10 years before diagnosis.

Until now, endometriosis has primarily been understood as a hormonal and inflammatory disorder. Researchers have now discovered non-hereditary gene changes (mutations), in endometriosis, which impact the growth of cells. Although these gene changes are often seen in cancer, researchers concluded that they do not lead to cancer in the case of endometriosis.

Researchers from BC Women’s Hospital + Health Centre, BC Cancer Agency, Vancouver Coastal Health, the University of British Columbia and collaborators at Johns Hopkins Medical Institutions examined tissues from women with endometriosis to make their discovery.

The results of the study will open the door to learn more about how common these gene mutations are, and which types of endometriosis have mutations. With further research, scientists may be able to apply this new information to categorize endometriosis and ultimately improve treatment through more personalized approaches to management.

Surgeries and analysis leading to this discovery took place at Vancouver General and UBC hospitals, with patients recruited from BC Women’s Centre for Pelvic Pain & Endometriosis.

The research for Cancer-Associated Mutations in Endometriosis without Cancer was supported by BC Cancer Foundation and VGH & UBC Hospital Foundation. The Foundations’ donors support the continued work of the OVCARE team in their effort to further understand the origins of ovarian and other gynecologic diseases, and to develop methods of prevention, early detection and treatment.



Dr. David Huntsman, scientist at BC Cancer Agency and Vancouver General Hospital and professor, Department of Obstetrics and Gynecology, Department of Pathology and Laboratory Medicine, UBC:

“We believe this discovery has potential to advance the treatment for endometriosis akin to what happened when Warren and Marshall discovered, 35 years ago, that stomach ulcers are caused by infection rather than surplus stomach acid. In that case, a better understanding of the cause led to better diagnoses and more effective treatments. We hope to see the same rapid progress for women with endometriosis.”


Dr. Paul Yong, gynecologist at BC Women’s Centre for Pelvic Pain & Endometriosis and assistant professor, Department of Obstetrics and Gynecology, UBC:

“Every day in my clinic, I see the impact of endometriosis pain and infertility on women’s lives and relationships. The discovery of gene mutations in endometriosis is a huge step to better understanding this complex disease, and to ultimately improving women’s health in Canada and worldwide.”


Dr. Michael Anglesio, assistant professor, Department of Obstetrics and Gynecology, UBC:

“This is the first time modern genetic research methods have been applied to endometriosis. These mutations are a first step in understanding the breadth of symptoms and outcomes that affect every patient differently. Finally, we have a roadmap to find the right treatments.”

Dr. Catherine Allaire, medical director, BC Women’s Centre for Pelvic Pain & Endometriosis and president, World Congress on Endometriosis:

“This exciting new discovery means that future treatment for patients may be more personalized; better classification of the disease could allow for more tailored treatments with improved responses.”


Quick facts:

· The displaced endometrial tissue causes inflammation, which can irritate surrounding tissue and may lead to developing scar tissue and adhesions.

· Women with endometriosis may experience a range of symptoms and respond to treatments differently.

· Researchers from BC Women’s Hospital + Health Centre, BC Cancer Agency, Vancouver Coastal Health, the University of British Columbia and collaborators at Johns Hopkins Medical Institutions published their findings in the New England Journal of Medicine this week.

· The research will also be presented at the upcoming World Congress on Endometriosis, which will take place in Vancouver this week, from May 17 to 20.

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