Australian research finds endometriosis, ovarian cancer genetically tied

New research from University of Queensland (UQ) in Brisbane, the capital city of the Australian state of Queensland, suggests that women with genes that predispose them to endometriosis also have higher risk of developing Epithelial Ovarian Cancers (EOC).

The research, published in Cell Reports Medicine and revealed on Wednesday, involved datasets comparing the genomes of 15,000 people with endometriosis and 25,000 with ovarian cancer.

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

Sally Mortlock from UQ’s Institute for Molecular Bioscience, said “we explored specific areas of DNA that increase the risk of both diseases and identified genes in the ovary and uterus tissue that could be targeted for therapy.”

The researchers estimated the genetic correlation and evaluated the causal relationship between genetic liability to endometriosis and EOC histotypes.

They identified 28 loci associated with both endometriosis and EOC, including 19 with evidence for a shared underlying association signal.

Mortlock emphasised that while the diseases are “genetically linked,” the overall risk for developing ovarian cancer was still low.

She said having endometriosis increased the risk of developing ovarian cancer to one in 55, compared with an estimated ovarian cancer risk of one in 76 women generally.

She added that knowing the associated risk factors may be valuable to disrupt biological pathways initiating cancer.