Scientists find genetic link between endometriosis and ovarian cancer

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

The study reviewed data from meta-analyses of endometriosis and EOC, noting that “this comprehensive analysis reveals deep genetic overlap between endometriosis and EOC histotypes with valuable genomic targets for understanding biological mechanisms linking 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 tissues and increases in size over time. , among others. While previous analyzes have observed how endometriosis can make people more susceptible to developing EOCs, the current study shows that endometriotic lesions and tumors also share similar genetic mutations.

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


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

The three main findings of the study are: first, people with a genetic predisposition to endometriosis may also be susceptible to developing EOC; second, that endometriosis and COE are biologically linked; and third, any genetic variant of endometriosis is likely to have an effect on EOC.

What is important to note, however, is that people with endometriosis are not necessarily likely to develop EOCs for sure. The genetic link, however, is an important step in gynecological research – it allows us to better understand both endometriosis and EOC, as well as how to take advantage of the new 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 these two diseases by understanding the genetic link between them. “, said the molecular bioscientist. Sally Mortlock, from the University of Queensland, and the study’s first author.

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

Since endometriosis has always been understudied, the current development is important to further our understanding of the disease. “Overall, studies have estimated that one in 76 women is at risk of developing ovarian cancer in her lifetime, and endometriosis slightly increases that number to 1 in 55,” Mortlock added.

Significantly, the paper revealed that among the regions where the shared genetic variants were found, some are known to harbor hormone-responsive genes. This means that hormonal regulation can help break the link between endometriosis and the NEC, reducing the risk of developing the latter, according to Science Alert.

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