DOvEEgene: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics

Study Overview
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Brief Summary
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This study aims to develop and validate a test for diagnosing ovarian and endometrial cancers early. It relies on detecting somatic mutations that are associated with these cancers in a biofluids sample taken from the cervix and the uterine cavity.

Detailed Description
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For women in high-income countries, ovarian/fallopian tube and endometrial cancers are within the top four cancers in terms of incidence, death and healthcare expenditure. The deaths associated with these cancers are largely caused by stage III/IV disease, for which cure rates have not changed in three decades, despite escalating costs of treatment. Attempts at early diagnosis have been ineffective in reducing mortality, because the high-grade subtypes, which account for the majority of deaths, metastasize while the primary cancer is still small, has not caused symptoms, and is undetectable by imaging or blood tumour markers. In recent years, the recognition that somatic mutations are early steps in carcinogenesis has led to a shift from tests such as imaging and non-specific blood tumour markers to technology that detects cancer-associated mutations in cervical, uterine, or blood samples. Several DNA-tagging technologies have been shown to be capable of identifying small amount of cancer DNA among thousands of normal cells, the proverbial needle in a haystack. This investigation aims to develop and validate an in-house developed DNA tagging technology 'DOvEEgene-Haloplex' for the early diagnosis of endometrial and ovarian cancers. The assay pipeline for barcoding and agnostic testing of the biofluids must lend itself to automation and high throughput testing. It must have good sensitivity and more importantly very high specificity, as the only way to corroborate a positive test is to remove the uterus, tubes and ovaries.

Official Title
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DOvEEgene: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics

Conditions
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Ovarian Neoplasms, Endometrial Neoplasms, Endometrial Cancer, Ovarian Cancer, Screening, Safety, Reduced Mortality, Reduced Morbidity, Early Diagnosis

Participation Criteria
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Eligibility Criteria
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Case Inclusion: Subjects should have suspected or confirmed cancer of the upper genital tract. Participant will undergo surgery for tumour removal. Control inclusion: • Subjects should be scheduled to have a hysterectomy, bilateral salpingectomy, with or without bilateral oophorectomy, for presumed benign disease.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Case Group<br>Participants must have suspected or confirmed upper genital tract cancer (uterine, tubal and ovarian) and must be scheduled to undergo surgery for tumor removal. | |
| Control Group<br>Participants must not be under investigation for any pre-cancerous or cancerous lesions of the genital tract, and must be scheduled for a hysterectomy, bilateral salpingectomy with/without bilateral oopherectomy for presumed benign condition. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Detection of cancer-related mutations | Diagnosis ovarian and endometrial cancers by detection of cancer-related mutation taken by brush sample of uterus with high sensitivity and specificity. | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Patient related outcomes including pain and acceptability | Pain scores reported by participants on numeric pain and discomfort scale (NPS). Patients' attitude towards the test including willingness to have it done on an annual basis will be evaluated. | 3 years | 
| Risks associated with the DOvEEgene test | Evaluate all risks associated with the DOvEEgene test including complications from the sampling technique as well as unnecessarily interventions resulting from false positive tests. | 3 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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genomics, somatic mutations, genetic mutations, high-grade serous cancer, ovarian cancer, endometrial cancer, DNA tagging