The study “Genetic Risk Factors For Ovarian Cancer And Their Role For Endometriosis Risk,” was published in the journal Gynecologic Oncology.
Endometriosis occurs when the lining of the uterus grows outside the uterus. Previous studies have suggested the condition is a risk factor for ovarian cancer.
Ovarian cancer may be caused by mutations in several genes, but whether the mutations are also involved in endometriosis or they mediate the link between the two diseases is unknown.
“Identifying overlapping genetic risk factors for endometriosis and ovarian cancer might be able to provide evidence of which molecular pathways are involved not only in the [origin], but also in the pathogenetic [or gene-caused disease] pathway leading from endometriosis to ovarian cancer,” researchers wrote.
The study included 385 endometriosis patients and 484 healthy participants who provided blood samples for genetic analysis. Researchers investigated 12 genetic variations, or polymorphisms, associated with ovarian cancer — all validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project.
The analysis showed that a variation in the HNF1B gene (rs11651755) was associated with endometriosis, providing a link between this disease and ovarian cancer. None of the other variations tested were associated with a risk of endometriosis.
“The validated ovarian cancer risk [variation] rs11651755 in HNF1B was identified as a susceptibility [factor] for endometriosis,” researchers wrote. “This could be an indication that HNF1B plays a role in the pathogenesis (the way the disease develops) and possibly in the progression of endometriosis to ovarian cancer.”
The HNF1B gene has been previously linked to other diseases, such as liver dysfunction, endometrial cancer and prostate cancer. It encodes a transcription factor, or type of protein that controls and regulates gene expression in cells. Gene expression involves the production of other proteins.
“It can be hypothesized that HNF1B is involved in the very early pathogenesis of ovarian cancer including endometriosis as part of this pathway,” researchers added. “Further studies are needed in order to confirm these results and to try to identify drivers and inhibitors of this multistep [cancer pathway] through endometriosis. HNF1B represents a reasonably well known gene that can help promote this research in the field of endometriosis and ovarian cancer.”