Scientists double number of known genetic risk factors for endometrial cancer

May 3, 2016, University of Cambridge
Scientists double number of known genetic risk factors for endometrial cancer
DNA representation. Credit: Andy Leppard

An international collaboration of researchers has identified five new gene regions that increase a woman's risk of developing endometrial cancer, one of the most common cancers to affect women, taking the number of known gene regions associated with the disease to nine.

Endometrial affects the lining of the uterus. It is the fourth most commonly diagnosed cancer in UK women, with around 9,000 new cases being diagnosed each year.

Researchers at the University of Cambridge, Oxford University and QIMR Berghofer Medical Research Institute in Brisbane studied the DNA of over 7,000 women with endometrial cancer and 37,000 women without cancer to identify genetic variants that affected a woman's risk of developing the disease. The results are published today in the journal Nature Genetics.

Dr Deborah Thompson from the Department of Public Health and Primary Care at the University of Cambridge said: "Our findings help us to paint a clearer picture of the genetic causes of endometrial cancer in women, particularly where there no strong family history of cancer. Prior to this study, we only knew of four regions of the genome in which a common genetic variant increases a woman's risk of endometrial cancer.

"In this study we have identified another five regions, bringing the total to nine. This finding doubles the number of known risk regions, and therefore makes an important contribution to our knowledge of the genetic drivers of endometrial cancer.

"Interestingly, several of the gene regions we identified in the study were already known to contribute to the risk of other common cancers such as ovarian and prostate.

"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 women at higher risk of endometrial cancer so that they can be regularly checked and be alert to the early signs and symptoms of the disease."

The study also looked at how the identified might be increasing the risk of cancer, and these findings have implications for the future treatment of endometrial cancer patients.

"As we develop a more comprehensive view of the genetic risk factors for , we can start to work out which genes could potentially be targeted with new treatments down the track," said 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."

The study was an involving researchers from Australia, the United Kingdom, German, Belgium, Norway, Sweden, the United States and China. The UK part of the study received funding from Cancer Research UK.

Dr Emma Smith, Cancer Research UK's science information manager, said: "The discovery of genetic changes that affect women's risk of developing endometrial – or womb – cancer could help doctors identify women at higher risk, who could benefit from being more closely monitored for signs of the disease.

"It might also provide clues into the faulty molecules that play an important role in womb cancer, leading to potential new treatments. More than a third of womb cancer cases in the UK each year could be prevented, and staying a healthy weight and keeping active are both great ways for to reduce the risk."

Explore further: Association between genetic condition, hormonal factors, and risk of endometrial cancer

More information: Timothy H T Cheng et al. Five endometrial cancer risk loci identified through genome-wide association analysis, Nature Genetics (2016). DOI: 10.1038/ng.3562

Related Stories

Association between genetic condition, hormonal factors, and risk of endometrial cancer

July 7, 2015
For women with Lynch syndrome, an association was found between the risk of endometrial cancer and the age of first menstrual cycle, having given birth, and hormonal contraceptive use, according to a study in the July 7 issue ...

Metformin may reduce cancer mortality risk

April 18, 2016
(HealthDay)—Metformin may reduce the risk of dying from some cancers for postmenopausal women with type 2 diabetes, according to a study published in the April 15 issue of the International Journal of Cancer.

Potential for a more personalised approach to womb cancer

May 7, 2015
Manchester doctors have helped show that high-risk womb cancer patients can be genetically profiled to allow them to receive more appropriate treatment.

Study quantifies faulty gene's role in ovarian cancer risk

January 19, 2016
Women who carry an inherited fault in the BRIP1 gene are three times more likely to develop ovarian cancer than those without it, researchers said Tuesday.

Bone loss drugs may help prevent endometrial cancer

December 22, 2014
A new analysis suggests that women who use bisphosphonates—medications commonly used to treat osteoporosis and other bone conditions—have about half the risk of developing endometrial cancer as women who do not use the ...

Oral bisphosphonate use tied to lower endometrial cancer risk

March 2, 2015
(HealthDay)—For postmenopausal women, oral bisphosphonate use is associated with a reduction in the risk of endometrial cancer, according to a study published online Feb. 23 in the Journal of Clinical Oncology.

Recommended for you

Discovery of the 'pioneer' that opens the genome

January 23, 2018
Our genome contains all the information necessary to form a complete human being. This information, encoded in the genome's DNA, stretches over one to two metres long but still manages to squeeze into a cell about 100 times ...

Researchers identify gene responsible for mesenchymal stem cells' stem-ness'

January 22, 2018
Many doctors, researchers and patients are eager to take advantage of the promise of stem cell therapies to heal damaged tissues and replace dysfunctional cells. Hundreds of ongoing clinical trials are currently delivering ...

Genes contribute to biological motion perception and its covariation with autistic traits

January 22, 2018
Humans can readily perceive and recognize the movements of a living creature, based solely on a few point-lights tracking the motion of the major joints. Such exquisite sensitivity to biological motion (BM) signals is essential ...

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.