More genetic risk factors for endometrial cancer uncovered Posted on May 24, 2016March 19, 2018 by Carly du Toit Cancer researchers at ACRF grant recipient, QIMR Berghofer Medical Research Institute, along with research teams from the University of Cambridge and Oxford University, have discovered five new gene regions that increase a woman’s risk of developing endometrial cancer. Endometrial cancer affects the lining of the uterus. It is the sixth most commonly diagnosed cancer in Australian women, with nearly 2,500 new cases expected to be diagnosed in 2016. The study was led by the head of the Molecular Cancer Epidemiology laboratory at QIMR Berghofer, Associate Professor Amanda Spurdle, and has been published in Nature Genetics. Associate Professor Spurdle said the findings helped to paint a clearer picture of the genetic causes of endometrial cancer in women who do not have a strong family history of cancer. “Up until now, we have only known about four gene regions in women in the general population that contribute to the risk of developing endometrial cancer,” Associate Professor Spurdle said. “In this study, we have identified another five, bringing the total to nine. This finding doubles the number of risk regions we know of, and therefore significantly increases our knowledge of the genetic drivers of endometrial cancer.” The study also looked at how the identified gene regions might be increasing the risk of other cancers, and what the implications would be for the future treatment of endometrial cancer patients. Interestingly, several of the gene regions we identified in the study were already known to contribute to the risk of other common cancers. “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,” Associate Professor Spurdle said. “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. Our genetic findings may also be useful, together with our knowledge of other risk factors, to identify women at risk of endometrial cancer so they can be regularly checked and be alert to the signs and symptoms.” The Australian Cancer Research Foundation has supported QIMR Berghofer Medical Research Institute by providing three grants, totalling AUD 6.65million, towards cutting edge cancer research equipment and technology. The original news post was published on the QIMR Berghofer website.
International study improves test for people at risk of bowel or endometrial cancers. Posted on February 19, 2015February 25, 2018 by Carly du Toit A more accurate way to identify those at a high risk of bowel or endometrial cancer has been discovered by cancer scientists in Queensland. Researchers at the QIMR Berghofer Medical Research Institute led a global effort to refine genetic information in an international database, meaning GPs will have the ability to access the publicly-available data and give patients a truer picture of their familial risk. This global project arose from the issues many GPs and patients seemed to be having from inconclusive results when tested for Lynch Syndrome – an inherited condition that increases the risk of bowel and endometrial cancer. Associate Professor Amanda Spurdle, who led the project, said, “The model – using the expertise of researchers and clinicians across the world with a particular knowledge of a rare disease – essentially turns indecipherable sequencing data into real knowledge that can have a clinical benefit.” “As a result of this work, doctors can more conclusively say whether those patients have Lynch Syndrome, and therefore whether they are at a higher risk of getting another cancer. “The reverse of that is that we may also ease the worry of some people who’ve had inconclusive results.” The research team involved Professor Maurizio Genuardi from the University of Florence and Professor Finlay Macrae from the Royal Melbourne Hospital. The International Society for Gastrointestinal Tumours (InSiGHT) committee pooled data from across the world on thousands of different gene changes. “Through this collaborative effort, we can be confident of our counselling advice to families, offer them testing for the gene fault, and, if they carry it, help them closely monitor their health and take preventative measures,” Associate Professor Spurdle said. The findings of this project can be found in esteemed research journal Nature Genetics. The ACRF is proud to have supported QIMR Berghofer Medial Research Institute, having provided more than $6 Million in research grant funding since 2002.
