A major new study has found genetics play a powerful and independent role in endometrial cancer risk - challenging the long‑held belief that obesity is the primary driver. The findings could lead to better screening of the women most at risk of developing the disease.
Endometrial cancer is an under recognised, yet common gynaecological cancer, with more than 4,000 Australian women currently living with it. Cases have doubled in the past 25 years, with rates increasing especially among women aged 25-44.*
In the new study, researchers from the Cancer Genetic Susceptibility lab at QIMR Berghofer analysed data from more than 129,000 women, and found even for those that have a 'healthy' BMI, women in the top third of genetic risk are twice as likely to develop the disease.
When women have both a high genetic risk and a BMI indicating obesity, the risk jumps nearly five‑fold.
This is the first evidence that genetics and body weight operate separately, and that combining both factors can improve prediction risk for endometrial cancer.
Lab head Associate Professor Tracy O'Mara says the findings show a re-think is required about which women are truly at risk.
"These results are fascinating to us, because I think a lot of the time people dismiss endometrial cancer risk if you're in a normal BMI category, when in reality there is still a group of people at higher risk of developing cancer," she said.
"These results really drive home the message that genetic risk matters even for women who are not overweight."
Previously, doctors relied on obesity as the main way of measuring cancer risk, with genetic testing reserved for rare hereditary conditions such as Lynch syndrome.
Associate Professor Dylan Glubb hopes the findings open the door to more personalised screening.
"Research like this could help identify thousands of high‑risk women globally who are currently missed by existing approaches. There are women out there who might benefit from early monitoring or prevention strategies," he said.
The researchers are also keen to build on genetic findings of endometrial cancer, in order to identify new drug targets for the disease.
