Five new gene regions increase risk of endometrial cancer

Five gene regions that increase women's risk of developing endometrial cancer have been identified. This takes the number of known gene regions – also known as loci- to nine, improving scientists' understanding of what causes the disease and how to best treat it.

The study, published in the journal Nature genetics, involved an international collaboration between scientists from Cambridge and Oxford University as well as the QIMR Berghofer Medical Research Institute in Australia.

Previous research had identified four regions of the genome in which common genetic variants increase the risk of developing endometrial cancer, but this study - based on a very large amount of genetic data- found five more.

Better diagnosis and therapies

The researchers conducted a large meta-analysis of three endometrial cancer genome-wide association studies involving a total of 7,737 cancer patients and 37,144 controls. Analysing the data, they identified the five new risk loci associated to gene variants which make endometrial cancer more likely. These gene regions had already been linked in the past to other types of cancer such as ovarian or prostate cancer.

The discovery may help doctors better identify and monitor patients who are most at risk of endometrial cancer – the fourth cancer most diagnosed in women in the UK. The disease develops as a result of a mix of genetic and environmental factors, which are still not very well understood.

"The study is relevant to women who have had history of womb cancer in their family. It means they can be monitored more closely to diagnose the cancer as early as possible, which greatly increases chances of survival", Dr Emma Smith from Cancer Research UK, told IBTimes UK.

"Although each individual variant only increases risk by around 10-15%, their real value will be in looking at the total number of such variants inherited by a woman, together with her other risk factors, in order to identify those at higher risk", adds Dr Deborah Thompson from the University of Cambridge.

Target treatments

Knowing which gene regions are involved in the development of a cancer can also lead, on the long term, to progress in treatment research by identifying potential targeted drugs.

"As we develop a more comprehensive view of the genetic risk factors for endometrial cancer, we can start to work out which genes could potentially be targeted with new treatments down the track," says associate Professor Amanda Spurdle from QIMR Berghofer."In particular, we can start looking into whether there are drugs that are already approved and available for use that can be used to target those genes."

This view is shared by Smith, who concluded: "Many cancer treatments come from understanding the biological mechanisms behind the disease. This discovery an interesting first clue to understand the gene variants involved in the development of womb cancer and what drugs we can use".