Genetic Screening For Endometriosis-Associated Ovarian Cancer

April 5, 2014

April Flowers for redOrbit.com Your Universe Online

Endometriosis is a chronic inflammatory disease that affects more than 176 million women and girls worldwide, according to the Endometriosis Foundation of America. Despite being one of the most common gynecological disorders, there is no definitive consensus on the cause of endometriosis. To add insult to injury, some women who have endometriosis are also predisposed to ovarian cancer.

A new study from the University of Pittsburgh Cancer Institute (UPCI) and Magee-Womens Research Institute (MWRI) reveals that genetic screening could someday help clinicians to know which women are most at risk.

The research team will present their results on the first comprehensive immune gene profile exploring endometriosis and cancer on Monday at the American Association for Cancer Research (AACR) Annual Meeting 2014.

A small subset of women with endometriosis go on to develop ovarian cancer, but doctors have no clinical way to predict which women, said Anda Vlad, MD, PhD, assistant professor of obstetrics, gynecology and reproductive sciences at MWRI. If further studies show that the genetic pathway we uncovered is indicative of future cancer development, then doctors will know to more closely monitor certain women and perhaps take active preventative measures, such as immune therapy.

Endometriosis is a painful condition that is often misdiagnosed for years before some form of correct treatment is attempted. As redOrbit reported in February, it is called a disease of theories, because so little is known about how it works, or who it will strike.

We know there is a genetic component, we know there is an environmental component, and we know there is an inflammatory component. But its very difficult to say for individual patients what particular sequence of events led to particular symptoms, Michael Beste, a postdoc in MITs Department of Biological Engineering, said.

It is the genetic component, and its association to cancer, that Vlad and her team are focused on finding.

Vlad and her team screened tissue samples from women with benign endometriosis, women with precancerous lesions and women with endometriosis-associated ovarian cancer. This allowed the researchers to identify the complement pathway, which refers to a series of protein interactions that trigger an amplified immune response, as the most prominent immune pathway that is activated in both endometriosis and endometriosis-associated ovarian cancer.

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Genetic Screening For Endometriosis-Associated Ovarian Cancer