Why is this study important?
Endometriosis has been understood as primarily a hormonal and inflammatory condition. Our study suggests that gene changes ("mutations") may be involved in the growth of endometriosis cells. While it is true that endometriosis can, in a few cases, become cancerous – it is exceptionally rare. Therefore, we do not believe these gene changes cause cancer in women with endometriosis. Instead, they may help us explain why endometriosis can develop, and thus potentially lead to better treatment of endometriosis in the future.
Was I born with these gene changes (mutations)?
No. We found that these gene changes occurred only in the endometriosis cells themselves. They are not present in other cells of the body. Thus, there is no risk of passing on these mutations to children.
Can I request to find out if I have these mutations?
At this stage, mutation testing is not done as part of the clinical care of women with endometriosis. However, patients at the BC Women's Centre for Pelvic Pain and Endometriosis may be informed about research studies where mutation testing may be performed. Because these are research studies, mutation results are not released to patients. In the future, as we gain a better understanding of how these gene changes contribute to endometriosis, mutation testing may be available to doctors and patients, but additional research is needed before this can happen.
Does this increase my chance of developing cancer?
No, the current findings do not indicate any increased risk of developing cancer. The risk of developing cancer from endometriosis is quite low (0.5%).
We hope that the discovery of these mutations is a step towards reclassifying endometriosis based on genetic information. Right now, we need to learn more about how common these mutations are, what kinds of endometriosis have mutations, and how we might use this information to tailor or improve treatment of endomeriosis.
I have endometriosis and want to take part in a study at the BC Women's Centre for Pelvic Pain and Endometriosis, but I'm not a patient. Can my doctor enrol me?
Currently, only patients referred to the BC Women's Centre for Pelvic Pain and Endometriosis are eligible to participate in research studies for mutation testing.
I want to know if I have these mutations! – Can I get them tested at a private lab?
No. Right now, we don't know enough about these mutations to recommend any sort of testing. More research is needed before endometriosis mutation testing is available to the public.