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

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

 

For Research Use Only. Not for use in diagnostic procedures.