Mutations that have been linked to endometrial cancer can be found in the uterine lavage fluid of pre- and post-menopausal women both with and without detectable cancer, according to a study published online on December 27, 2016 in PLOS Medicine by John Martignetti, M.D., Ph.D., of the Icahn School of Medicine at Mount Sinai and colleagues. The open-access article is titled "Genomic Analysis of Uterine Lavage Fluid Detects Early Endometrial Cancers and Reveals a Prevalent Landscape of Driver Mutations in Women without Histopathologic Evidence of Cancer: A Prospective Cross-Sectional Study." "Today, there are no effective screening methods for endometrial cancer, which is increasing in both incidence and mortality in the United States," said Peter Dottino, M.D., Director of Gynecologic Oncology at Mount Sinai Health System and one of the senior authors on the study. "We were therefore interested in the possibility of coupling newly developed genomic technologies with current treatment practices to develop a precision medicine assay for screening and early detection of this cancer." In the new study, researchers performed uterine lavage - where the inside of the uterus is rinsed with saline fluid to collect loose cells and cell-free DNA - on 107 women undergoing diagnostic hysteroscopy due to post-menopausal uterine bleeding or abnormal pelvic ultrasound results. The collected cells and DNA were analyzed by the research teams, including those of Boris Reva, Ph.D., and Robert Sebra, Ph.D., of the Icahn School of Medicine at Mount Sinai, in collaboration with the advanced research team at Swift Biosciences who together developed sets of targeted gene panels to sequence specific genes known to be associated with endometrial cancer development and progression.
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