Study shows genetic link between endometriosis and ovarian cancer subtypes

Researchers from the University of Queensland have demonstrated a genetic link between endometriosis and ovarian cancer subtypes, allowing them to identify potential drug targets for treatment and improve understanding of the two diseases .

Previous studies have shown that people with endometriosis have a slightly increased risk of developing epithelial ovarian cancer.

Dr. Sally Mortlock and Professor Grant Montgomery of UQ’s Institute of Molecular Bioscience conducted a large genetic study to identify a genetic basis for this risk to better understand the biological overlap between these reproductive disorders.

More information about how they develop, their associated risk factors, and the shared pathways between endometriosis and different types of ovarian cancer is needed.”

Dr Sally Mortlock, UQ Molecular Biosciences Institute

Endometriosis is a chronic debilitating disease that affects the health of 1 in 9 women of reproductive age, where tissue similar to the lining of the uterus grows in other parts of the body, causing pain and infertility.

“Our research shows that people with certain genetic markers that predispose them to endometriosis also have a higher risk of certain subtypes of epithelial ovarian cancer, namely clear cell ovarian cancer and endometrioid.”

Dr Mortlock said that although the diseases are genetically linked, the risk of ovarian cancer in people with endometriosis is not significantly increased.

“Overall, studies have estimated that 1 in 76 women will be at risk of developing ovarian cancer in their lifetime and endometriosis slightly increases that figure to 1 in 55, so the overall risk is still very low,” she said.

The study found genes that could be drug targets to treat both endometriosis and epithelial ovarian cancer in the future.

“We explored specific DNA domains that increase disease risk and identified genes in ovarian and uterine tissues that could be targets for therapy and may be useful in understanding the link between disorders and disrupt the biological pathways that cause cancer.”

The researchers combined large datasets comparing the genomes of 15,000 people with endometriosis and 25,000 with ovarian cancer to find an overlap in risk factors between the two diseases.

The collaboration also involved Associate Professor Kate Lawrenson of Cedars-Sinai Medical Center and Dr Siddhartha P. Kar of the University of Bristol.


Journal reference:

Mortlock, S. et al. (2022) A multilevel investigation of the genetic relationship between endometriosis and ovarian cancer histotypes. The cell brings back the medicine.

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