Genetic link identified between endometriosis and ovarian cancer

A genetic predisposition to endometriosis may also increase a woman's risk of developing certain types of ovarian cancer, new findings suggest.

Researchers at the University of Queensland, Australia, in collaboration with Cedars-Sinai Medical Centre, California, and the University of Bristol performed a large genomic comparison study to understand what the genetic overlap was between these two conditions. They studied genomes from 15,000 women with endometriosis, and 25,000 women with ovarian cancer.

'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' explained Dr Sally Mortlock, lead author on the study.

Endometriosis is an often-debilitating condition affecting approximately one in nine women, where tissue similar to the uterus is found to be growing in other areas of the body. Endometriosis can be extremely painful, and cause infertility.

Publishing their findings in the journal Cell Reports Medicine, Dr Mortlock said 'More information about how [endometriosis and ovarian cancer] develop, their associated risk factors, and the pathways shared between endometriosis and different types of ovarian cancer has been needed'

To investigate the risk factors and disease pathways, the researchers explored areas of DNA that increase the risk of both diseases. By finding genetic regions that overlap as risk factors for endometriosis and ovarian cancer, the researchers suggest that this will inform treatment discovery. They identified genes in ovary and uterus tissue that could be potential targets.

The researchers emphasised that these findings were not a cause for alarm. The risk of developing ovarian cancer in a lifetime is approximately 1 in 76. Having endometriosis increases this risk slightly to 1 in 55. 'The overall risk is still very low' explained Dr Mortlock.