Dr. Sally Mortlock and and Prof. Grant Montgomery of the UQ’s Institute for Molecular Bioscience conducted a large-scale genetic study to identify the genetic basis for this risk with the aim of better understanding the biological overview between these reproductive disorders.
“More information about how they develop, their associated risk factors, and the pathways shared between endometriosis and different types of ovarian cancer has been needed,” Dr. Mortlock said.
Endometriosis is a chronic debilitating disease that affects the health of one in nine women of reproductive age, where tissue such as the lining of the uterus grows in other parts of the body and causes pain and infertility.
“Our research shows that individuals carrying certain genetic markers that predispose them to having endometriosis also have a higher risk of certain epithelial ovarian cancer subtypes, namely clear cell and endometrioid ovarian cancer.“
Dr. Mortlock said that although these diseases are genetically linked, they do not significantly increase the risk of ovarian cancer in people with endometriosis.
“Overall, studies have estimated that 1 in 76 women are at risk of developing ovarian cancer in their lifetime and having endometriosis increases this slightly to 1 in 55, so the overall risk is still very low,” she said.
The study identified genes that could be drug targets for treating both endometriosis and epithelial ovarian cancer in the future.
“We explored specific areas of DNA that increase the risk of both diseases and identified genes in ovary and uterus tissue that could be targets for therapy and may be valuable to understand the link between the disorders and to disrupt biological pathways initiating cancer.“
The researchers combined large data sets comparing the genes of 15,000 people with endometriosis and 25,000 people with ovarian cancer to find that there is a risk factor between the two diseases.
Kate Lawrenson, associate professor at Cedars-Sinai Medical Center and Dr. Siddhartha P. Kar from the University of Bristol also contributed to this study.