Rethink Endometriosis: Genomics and Microenvironment Influence on Biology and Malignant Potential

One million Canadian women are affected by endometriosis annually. There is little investment in research, and socioeconomic cost, >$4 billion annually in Canada, continue to climb owing to lost productivity, sick days, treatments for frequent pain, infertility and depression. Most critically, affected women may have up to a 10-fold increased risk of developing specific types of ovarian cancer. There are no biological features that predict if endometriosis will result in severe or chronic pain, infertility, or cancer.

In 2017, my work identified cancer mutations in the DNA of endometriosis, a feature seen only in cancer.

Since then, I have established a research program with two goals:

1. to examine association between specific mutations and types of endometriosis.
2. to understand how other biological features, such as the immune-system, may be affected by mutations and contribute to the establishment of endometriosis, and progression to cancer. Cancer mutations are present in all types of endometriosis, including those with no risk of cancer. Additional work is needed to understand how these mutations influence the biology and symptoms of both endometriosis and their associated cancers, as well as establish management strategies.