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Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays 

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Presented By:
Lucy Gilbert, MD, MSc, FRCOG
Ioannis Ragoussis, Ph.D.
Speaker Biography:
Dr. Lucy Gilbert is a Professor in the Department of Obstetrics & Gynecology and the Department of Oncology at McGill University. She is the Director of Gynecologic Oncology at McGill University and McGill University Health Centre (MUHC), which is a designated level-IV unit that provides gynecological cancer care for the province of Quebec. Dr Gilbert heads the Women's Health Research Unit of the MUHC, which focuses on research that produces practical and immediate benefits for women with cancer. The Women's Health Research Unit is active in collaborative multinational clinical trials investigating new precision therapies for gynecologic cancers. However, Dr Gilbert's main area of interest is the early detection of ovarian and uterine cancers while they are still curable. To this end, she has set up a network of satellite clinics called DOvEE (Diagnosing Ovarian and Endometrial Cancers Early) which provide open access and fast-track investigations to women over 45 with symptoms associated with gynecologic cancers. She and her team have developed a new genetic pap-test called DOvEEgene for detecting these cancers very early before they even cause symptoms. Her team has completed the Phase I & II testing of the DOvEEgene test and is presently set to launch the Phase III.
Dr. Ioannis Ragoussis has a BSc/MSc and PhD in Biochemistry from University of Tuebingen. He is Head of Genome Sciences at the McGill Genome Centre responsible for the scientific oversight of its genomics platforms, technical developments and integration. He is Professor at the Department of Human Genetics and in the Department of Bioengineering McGill University since 2013. He established the first Single Cell Genomics Laboratory in Quebec and leads the Advanced Genomics group applying a number of long read and linked read sequencing technologies. He is currently working on genome sequencing technologies and genome assembly, childhood and adult brain cancer, breast cancer, stomach and esophageal cancers, analyzing tumor heterogeneity, identification of progenitor cells, working towards the identification of drug targets. His lab is a member the CRUK Grant Challenge STORMing Cancer project as well as a number of Genome Canada, CFI and CIHR projects. He has 220 authored/co-authored publications.
Webinar:
Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
Webinar Abstract:
Most deaths from ovarian and endometrial cancer are due to high-grade subtypes that metastasize before they are detectable by available tests. We present DOvEEgene, a genomic capture based uterine-pap test, which can identify prevalent ovarian/endometrial cancers as well as germline mutations predisposing to these cancers using high sensitivity sequencing of genes implicated in ovarian and endometrial carcinogenesis. As pathogenic somatic mutations associated with these cancers are also present in benign disease common in peri/postmenopausal women, we used a machine-learning derived classifier to differentiate cancer from non-cancer. We will present data derived from screening of 584 women in two phases , where we have achieved a sensitivity of 70% (95 % CI 61%-79%) and specificity of 100% (95% CI 96-100%). DOvEEgene, shows promise as a screening test as it can detect prevalent endometrial/ovarian cancers as well as hereditary predisposition to these cancers in peri/postmenopausal women.
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22 июн 2021

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