Genetics Play Significant Role in Endometrial Cancer Risk, Landmark Study Reveals
A groundbreaking new study has upended the widely held belief that obesity is the primary factor driving endometrial cancer risk, revealing that genetics play a powerful and independent role in the disease. The findings, published by researchers from the Cancer Genetic Susceptibility lab at QIMR Berghofer, could pave the way for improved screening methods targeting women most at risk.
Endometrial cancer, often under-recognized despite being one of the most common gynecological cancers, affects more than 4,000 Australian women. Alarmingly, cases have doubled over the past 25 years, with the greatest increase seen among women aged 25-44.
The new study analyzed data from over 129,000 women and found that women in the top third of genetic risk are twice as likely to develop endometrial cancer—even if they maintain a healthy body mass index (BMI). For women who have both a high genetic risk and obesity, the risk skyrockets nearly five-fold.
This research provides the first evidence that genetics and body weight are independent risk factors for endometrial cancer. It also suggests that combining genetic and BMI information can greatly improve the accuracy of risk prediction.
Associate Professor Tracy O’Mara, who leads the lab, emphasized the need to rethink which women are considered 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 added, “These results really drive home the message that genetic risk matters even for women who are not overweight.”
Until now, doctors have relied primarily on obesity as a risk indicator, with genetic testing mostly reserved for rare hereditary conditions like Lynch syndrome. The new findings, however, point toward a future of more personalized cancer screening.
Associate Professor Dylan Glubb, a co-author of the study, hopes the research will help identify thousands of high-risk women globally who are currently overlooked 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 these genetic findings to identify new drug targets, offering fresh hope in the fight against endometrial cancer.
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