Scientists identify link between endometriosis and cancer

15 May 2017

Endometriosis is a condition in which tissue grows on the outside of a uterus, causing vomiting, bowel disorders and severe pelvic pain in sufferers.

Scientists have discovered a link between endometriosis and gene mutations that lead to cancer.

It’s an incurable illness and can leave women infertile, with celebrities including Lena Dunham and Julianne Hough, among those to be diagnosed.

Now, academics from a number of institutions, including Johns Hopkins Medicine and the University of British Columbia, have looked into the issue more closely and found genes linked to cancer in benign endometriosis samples.

Studying 39 women from New York, Japan and Vancouver, the researchers focused on a subtype of endometriosis known as "deep-infiltrating" which can lead to pain during periods, bowel movements and intercourse. The majority of the women tested had single or multiple gene mutations, suggesting that the nonthreatening condition shares similar features, and a molecular form, as dangerous cancerous growths that can result in tumours.

It’s thought that the DNA errors in the uterus condition aren’t frequent enough to cause cancer though, according to the study authors.

“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,” study co-author Dr. Mike Anglesio said.

While Dr. Ie-Ming Shih, a gynaecology professor at Johns Hopkins, added that the discovery of the mutations marked the first step in developing a genetics-based system for classifying endometriosis so that clinicians can investigate which forms of the disorder may need more aggressive treatment and which may not.

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