Researchers find genetic link between endometriosis and ovarian cancer

March 21, 2022

2 minute read


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Data published in Medicine Reports Unit showed that endometriosis was genetically linked to ovarian cancer.

Specifically, the researchers found that endometriosis had a strong causal relationship with two types of epithelial ovarian cancer (EOC): clear cell (CCOC) and endometrioid (ENOC). There was also a slightly weaker relationship with high-grade serous ovarian cancer.







Healio spoke with Sally Mortlock, PhD, a postdoctoral researcher at the Institute of Molecular Bioscience at the University of Queensland in Brisbane, Australia, to learn more about the findings and their implications for future treatment of the two diseases.

Helio: What motivated this study?

Mortlock: Previous studies have reported a higher incidence of COE in women with a history of endometriosis. We wanted to better understand this potential link between diseases. Our research aimed to find common genetic risk factors for diseases and shared biological pathways leading to disease.

Helio: Why is it important to investigate this topic?

Mortlock: Although endometriosis is one of the most common medical problems facing Australian women, with 1 in 9 women of childbearing age having the condition, our understanding of the factors contributing to the condition is still limited and the diagnosis can take an average of 7 to 12 years. . Ovarian cancer, although less common, is the deadliest gynecological cancer, in part due to resistance to therapies and the lack of effective early detection strategies. More information about how these two diseases develop and their associated risk factors is needed to advance our understanding so that we can develop better early detection and treatments.

Helio: Were any discoveries surprising?

Mortlock: We found that people who carry certain genetic markers that predispose them to endometriosis also have a higher risk of certain subtypes of COE, namely CCOC and ENOC. We were able to identify 19 independent locations on the genome that contained genetic markers that increased risk for both diseases. We have found that different genetic markers are shared between endometriosis and different types of EOC, and by looking at the genes at these locations we are gaining a better understanding of how the diseases are linked and clues to the biological pathways behind the diseases. different types of ovarian cancer.

Helio: How will your findings impact clinical care?

Mortlock: Our findings give us a better understanding of the risk factors and biological pathways contributing to these diseases that can be used to inform better diagnosis and treatments. We have identified in this study genes that are linked to both diseases and that could be drug targets to treat both endometriosis and EOC in the future, as well as genes that could disrupt the link between the two. diseases. Knowledge of the relationship between endometriosis and ovarian cancer may also inform targeted ovarian cancer screening in the future.

Helio: Considering these results, what steps need to be taken to progress in the treatment of endometriosis and NECK?

Mortlock: The genes identified in this study will be further investigated to better understand their role in disease development and progression.

Helio: Is there anything else you would bewould you like to add?

Mortlock: Although there is a significant overlap in genetic risk factors between endometriosis and ovarian cancer, the risk of women with endometriosis developing ovarian cancer is not significantly different from other women. . 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 remains very weak.

Endometriosis affects as many women as diabetes and asthma, but it has not received the same level of attention or funding. Funding for the next generation of researchers is limited and highly competitive, competing with better-known diseases. It is important to ensure that the next generation of endometriosis researchers is not lost. Such a loss could limit future scientific discoveries in a disease that affects so many women.

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