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Endometrial cancer gene found

In a world first, researchers from the Queensland Institute of Medical Research (QIMR) and the University of Cambridge have identified an area of the genome that increases the risk of developing endometrial cancer.

Endometrial (uterine) cancer is the most common gynaecological cancers in the women of developed countries. It affects nearly 2,000 Australian women, and causes approximately 300 deaths per year.

Dr Amanda Spurdle from QIMR’s Molecular Cancer Epidemiology Laboratory said this is a significant discovery.

“We hope that studies like this will provide us with better understanding about how gynaecological cancers develop and what influences the risk of disease.”

“This is the first endometrial cancer gene identified using the genome-wide association study approach, and involved comparing more than 1,200 endometrial cancer patients to more than 5,000 unaffected people for more than 500,000 genetic markers across the genome.”

“The area we have identified is located close to the HNF1B gene, which has previously been associated with prostate cancer risk. It was surprising to learn that this area of the genome might also influence endometrial cancer risk, since these two cancers were not previously recognised to have similar underlying genetic causes.”

“Our results show that research studies that screen genetic markers across the entire genome are important to identify previously unknown cancer genes and pathways for future clinical studies.”

This research was part of an international study including groups from Australia, the UK, Germany, Belgium, China, Norway, Sweden, Switzerland, and the USA and would not have been possible without funding from the National Health and Medical Research Centre.

The paper will be online published in the prestigious journal Nature Genetics on Monday 18 April.