Using genomics to improve detection of endometrial cancer

Researchers led by the Icahn School of Medicine are using genomics to improve the detection of endometrial cancer.

Endometrial cancer is becoming both more prevalent and more deadly, yet there are still no good screening methods to catch the disease in its earliest stages, when treatments stand the best chance of being effective. Scientists at the Icahn School of Medicine at Mount Sinai in New York are working on a solution, and it lies in detecting genetic mutations in the lining of the uterus.

In a newly published study, the researchers collected DNA from the uterine linings of 107 women who were undergoing diagnostic procedures. After analyzing the gene samples in collaboration with Swift Biosciences of Ann Arbor, MI, they developed panels that can be used to sequence genes that are known to be associated with the development and progression of endometrial cancer, according to a press release from Mount Sinai. Separately, they analyzed the uterine tissue samples using traditional laboratory methods.

They discovered that 7 of the women had developed endometrial cancer and that all of them had significant gene mutations associated with the disease. However, 51 women who did not develop endometrial cancer also had the mutations, making it unclear how exactly the genetic abnormalities cause cancer in some women but not others.

The findings “raise previously unexplored questions into endometrial cancer development and its possible interruption,” said John Martignetti, associate professor of genetics and genomic sciences at the Icahn School. “The next phase of our ongoing research with 1,000 women enrolled from across multiple institutions will help us to begin sorting out these questions which will ultimately be key to improving upon cancer care." The study was published in the journal PLOS Medicine.

The Icahn School’s efforts are part of a larger push in the oncology community to improve the early detection of cancer. Several research groups and a handful of companies are working on so-called liquid biopsies, which are designed to detect tiny bits of tumor DNA cast off into the bloodstream. The science is still in its infancy, but the prospect of an easy blood test to detect cancer before it produces symptoms has been enticing to entrepreneurs and venture capitalists. A year ago, for example, Illumina spun off Grail, a startup backed by $100 million from the likes of Bill Gates and Bezos Expeditions. And CellMax Life has raised $14 million to get started developing cancer-detecting blood tests based on a technology platform that combines circulating cancer DNA with circulating tumor cells.

The method used in Icahn’s study to collect DNA from the uterine lining, called “uterine lavage,” can be done quickly and easily in a physician’s office, Martignetti notes in the release. He is now working with the Western Connecticut Health Network’s new Laboratory for Translational Research to further efforts to improve gynecologic and oncology care using genomics. They plan to continue their research into endometrial cancer mutations with the goal of improving the surveillance methods used to detect gynecological cancers. Martignetti says he’s hopeful a “molecular approach could lead to early detection of pre-cancerous and cancerous conditions of the uterus."