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Scientists Find a Genetic Link Between Endometriosis and Ovarian Cancer

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Mar 22, 2022

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A class of ovarian cancers, known as epithelial ovarian cancer (EOC), may share a link with endometriosis. New research published last week in Cell Reports Medicine suggests that this link may be genetic in nature — and the two may even share a causal relationship.

The study looked at data from endometriosis and EOC meta-analyses, noting “This comprehensive analysis reveals profound genetic overlap between endometriosis and EOC histotypes with valuable genomic targets for understanding the biological mechanisms linking the diseases.”

Scientists have long observed how, although benign, endometriosis shares certain characteristics with cancer — namely that it metastasizes by spreading to other parts of the body, invades tissue, and increases in size over time, among others. While previous analyses have observed how endometriosis can make people more susceptible to developing EOCs, the present study shows that endometriotic lesions and tumors share similar genetic mutations too.

Of the various types of EOCs, endometrioid (ENOC), and clear cell (CCOC) EOC are most strongly associated with endometriosis in terms of genetic linkages, the researchers found.


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To a lesser extent, high-grade serous ovarian cancer (HGSOC) is also related — and this is the deadliest form of ovarian cancer. The results of the study, overall, show that people with endometriosis are two to three times more likely to develop EOCs.

The three key takeaways from the study are these: first, that those with a genetic predisposition to endometriosis may also be likely to develop an EOC; second, that endometriosis and EOC are biologically related; and third, any genetic variant in endometriosis is likely to have an effect on EOC.

What’s important to note, however, is that people living with endometriosis are not necessarily likely to develop EOCs for sure. The genetic link, however, is a milestone in gynecological research — it allows us to better understand both endometriosis and EOCs, as well as how to leverage the newfound connection to treat both.

”We don’t want women with endometriosis to worry, but rather we want them to be aware and know that the purpose of this study was to increase our understanding of both of these diseases by understanding the genetic link between them,” said molecular bioscientist Sally Mortlock, from the University of Queensland, and the first author of the study.

The results “yield genomic targets that may facilitate preventive pharmacological intervention by disrupting the link between endometriosis and EOC and promote targeted EOC screening in women with endometriosis,” the paper states.

Given how under-researched endometriosis has historically been, the current development is significant in terms of furthering our understanding of the condition. “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,” Mortlock added.

Significantly, the paper found that of the regions where the shared genetic variants were found, some are known to host hormone-responsive genes. This means that hormone regulation may help break the connection between endometriosis and EOC — thereby lowering someone’s risk of developing the latter, according to Science Alert.

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Written By Rohitha Naraharisetty

Rohitha Naraharisetty is an Associate Editor at The Swaddle. Previously, she was a freelance writer and independent researcher working in the intersection of gender, social movements, and international relations. She can be found on Instagram at @rohitha_97 or on Twitter at @romimacaronii.

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