Five new gene regions increase risk of endometrial cancer

womb cancer women — The most common treatment is the surgical removal of the womb Istock

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".

What is endometrial cancer?

Endometrial cancer is the most common form of womb or uterine cancer and affects more women than ovarian or cervical cancer.

Up to 9 000 women each year are diagnosed with womb cancer, making it the fourth cancer most diagnosed in women, right after breast cancer, lung cancer and cancer of the colon and rectum.

Womb cancer is the most common female reproductive cancer. Istock

The disease occurs when the cells that make up the lining of the womb, the endometrium, become cancerous. It is more frequent in women who have been through the menopause, with a majority of cancers diagnosed in women aged 40 to 74. An important symptom is vaginal bleeding.

Causes are not well understood but include a combination of genetic, biologic and environmental factors.

There is evidence that women with hormone imbalance are more at risk of developing womb cancer, especially if they have higher-than-normal levels of oestrogen in their body.

Being overweight, suffering from diabetes or polycystic ovarian syndrome or never having had children are all linked to such a potential hormone imbalance. There is also a small risk increase with long-term use of breast cancer drug tamoxifen.

The most common form of treatment involves hysterectomy - the surgical removal of the womb. This can be very effective for women in early stage of the cancer, but it does mean they will not be able to have children in the future. Patients who have not gone through menopause and would like to have children may go through a type of hormone therapy. Sometimes, chemotherapy and radiotherapy can also be prescribed, in conjunction with surgery.

Living with womb cancer can be difficult. In particular, women's sex life may be greatly affected especially if they have gone through a hysterectomy.

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