Study Finds New Genomic Risk Factors For Uterine Cancer

An international team of researchers has discovered five new genetic risk factors linked to the development of endometrial cancer, a common gynaecological cancer affecting the lining of the uterus. This discovery marks a significant step forward in understanding the hereditary basis of the disease.

Endometrial cancer affects approximately 400,000 women worldwide every year, with around 100,000 deaths attributed to it.

While known risk factors include obesity, diabetes, elevated oestrogen levels, and advancing age, about 5% of cases stem from inherited genetic mutations linked to syndromes such as Lynch and Cowden.

Despite these known genetic predispositions, many hereditary causes remain unclear. The Hannover Medical School (MHH) team’s study, published in eBioMedicine, adds five new genomic sites to the list of risk factors, increasing the total from 16 to 21.

A Closer Look at Genetic Risk

Dr Thilo Dörk-Bousset, head of the gynaecological research unit at MHH, explained, “This brings us one step closer to our goal of predicting the risk of hereditary uterine cancer as accurately as possible. The more genes we find that are responsible, the more accurately we can calculate the probability of a woman developing endometrial cancer.”

The researchers analysed genetic data from more than 17,000 endometrial cancer patients and compared it to the genomes of roughly 290,000 healthy women across several national biobanks. These results were then validated in an independent group of study participants.

One gene of particular interest is Navigator-3 (NAV3). Laboratory tests showed that disabling NAV3 in uterine cells led to increased cell growth, while overactivity caused cell death.

Dr Dhanya Ramachandran, molecular biologist at MHH, said, “These results suggest that NAV3 normally limits cell growth in the endometrium and thus suppresses cancer formation as a so-called tumour suppressor gene.”

The discovery of these new genetic risk factors offers promising avenues for better screening, early diagnosis, and personalised treatment. It also opens the door to potential preventive strategies targeting these genes.

By deepening our understanding of the genetic underpinnings of endometrial cancer, this research could help reduce the disease’s burden and improve outcomes for countless women globally.

The MHH team emphasises that while these findings mark important progress, further studies are needed to translate this genetic knowledge into clinical practice.

The identification of additional risk genes like NAV3 can ultimately support the development of innovative therapies and tailored interventions for those at risk.

This breakthrough highlights the ongoing importance of genomic research in combating cancer and enhancing women’s health worldwide.

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