Professor, Department of Obstetrics & Gynecology Department of Oncology, McGill University and Director, Gynecologic Cancer Service McGill University Health Centre
BIOGRAPHY
JUN 08, 2021 10:00 AM PDT
Researching Early Detection of Ovarian and Endometrial Cancer using High Sensitivity Genomic Assays
Speakers
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Ioannis Ragoussis, Ph.D.
Head of Genome Sciences, McGill University and Génome Québec Innovation CentreBIOGRAPHY
Event Date & Time
Date: June 8, 2021
Time: 10:00am (PDT), 1:00pm (EDT)
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.
Learning Objectives:
Part A
- Develop an understanding of the public health issues related to endometrial and ovarian cancer
- Outline of study design considerations for gynecological cancer screening
- Understanding of tissue sampling approaches
Part B
- Insight in genomic approaches to detect cancer associate somatic mutations
- Understanding of next generation sequencing based methodologies allowing the detection of somatic mutations with high sensitivity
- Understanding of gene panel design considerations
- Summarize next generation sequencing data analysis approaches
Joint
- Understanding of data interpretation approaches and modelling
For Research Use Only. Not for use in diagnostic procedures.
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