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DOvEEgene: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics

DOvEEgene: Diagnosing Ovarian and Endometrial Cancer Early Using Genomics

Recruiting
18 years and older
Female
Phase N/A

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Overview

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.

Description

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.

Eligibility

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.

Study details
    Ovarian Neoplasms
    Endometrial Neoplasms
    Endometrial Cancer
    Ovarian Cancer
    Screening
    Safety
    Reduced Mortality
    Reduced Morbidity
    Early Diagnosis

NCT02288676

McGill University

15 May 2024

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