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Women genetically predisposed to endometriosis also have a higher ovarian cancer risk

Embargoed until: Publicly released:
Peer-reviewed: This work was reviewed and scrutinised by relevant independent experts.

Meta-analysis: This type of study involves using statistics to combine the data from multiple previous studies to give an overall result. The reliability of a meta-analysis depends on both the quality and similarity of the individual studies being grouped together.

People: This is a study based on research using people.

There are strong genetic links between endometriosis and epithelial ovarian cancers, according to Australian research. The researchers combined meta-analyses looking at the genetic factors influencing both endometriosis and ovarian cancers. They used a technique called ‘Mendelian Randomisation’ - which uses genetics to allow scientists to determine whether one thing causes another, rather than them just being linked, and say their findings show a causal link between endometriosis and a risk of multiple types of ovarian cancer. The researchers say this could support additional ovarian cancer screening for women with endometriosis in the future.

Journal/conference: Cell Reports Medicine

Link to research (DOI): 10.1016/j.xcrm.2022.100542

Organisation/s: The University of Queensland, QIMR Berghofer Medical Research Institute, Queensland University of Technology (QUT), The University of Melbourne

Funder: This work was supported by the National Health and Medical Research Council of Australia (GNT1026033, GNT1105321, GNT1147846, Investigator Grant 1177194 to G.W.M. and Medical Research Future Fund Research grant MRF1199785 to S.M.) and National Institutes of Health (R01CA193910, R01CA204954, R01CA211707, R01CA251555). S.P.K. is supported by a United Kingdom Research and Innovation Future Leaders Fellowship (MR/ T043202/1). K.L. is supported by a Liz Tilberis Early Career Award (599175) and a Program Project Development (373356) from the Ovarian Cancer Research Alliance, plus a Research Scholar’s Grant from the Anatomical So- Q14 ciety (134005). For funding details of the endometriosis meta-analysis, please see Sapkota et al.17 For funding details of the ovarian cancer meta-analysis, please see Phelan et al.18

Media release

From: The University of Queensland
Endometriosis and ovarian cancer genetically tied

University of Queensland researchers have demonstrated a genetic link between endometriosis and ovarian cancer subtypes enabling them to identify potential drug targets for therapy and increasing the understanding of both diseases.

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

Dr Sally Mortlock and Professor Grant Montgomery from UQ’s Institute for Molecular Bioscience carried out a large genetic study to identify a genetic basis for this risk with a view to better understand the biological overlap 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 1 in 9 women of reproductive age, where tissue similar to the uterus lining grows in other parts of the body, causing 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 the diseases are genetically linked, the risk of ovarian cancer for those with endometriosis is not substantially increased.

“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 found genes that could be drug targets to treat 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 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 at Cedars-Sinai Medical Center and Dr Siddhartha P. Kar from the University of Bristol.

The study was published in Cell Reports Medicine.

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