Routine Shallow-coverage Whole Genome Sequencing Testing of Liquid-based Cervical Smears for the Early Diagnosis of Ovarian Cancer

Condition(s) studied

Study summary

High-grade serous ovarian carcinoma (HGSOC) is the deadliest gynaecological tumour. The 5-year overall survival rate for advanced-stage disease is less than 30 per cent, due to diagnosis at an advanced stage.

There is currently no validated screening test for ovarian cancer. According to the literature, the current hypothesis is that HGSOCs develop primarily from the distal part of the fallopian tube, which is anatomically close to the lower genital tract. Tumour cells have even been observed in cervical smears.

Studies suggest that early diagnosis of HGSOC is possible non-invasively by detecting pathogenic variants of the TP53 gene in DNA extracted from cervical smears.

Studies suggest that early diagnosis of HGSOC is possible using non-invasive methods by detecting pathogenic variants in the TP53 gene in deoxyribonucleic acid (DNA) extracted from cervical smears.

In 2023, whole-genome sequencing (WGS) of DNA extracted from cervical smears to detect genomic instability successfully identified the presence of high-grade serous ovarian cancer up to nine years before diagnosis. This study demonstrates the feasibility of early diagnosis of ovarian cancer using genomic instability analysis via Shallow-coverage whole-genome sequencing (sWGS) on DNA obtained from cervical smears.

This study aim to confirm the feasibility of diagnosing high-grade serous ovarian carcinoma by analysing genomic instability via sWGS on DNA extracted from liquid-based cervical smears, using a homogeneous series of samples from patients treated at the Toulouse University Cancer Institute-Oncopole (IUCT-Oncopole).

Eligibility

Primary outcome measure(s)

• Proportion of patients with a positive CPA test on tumour and cervical samples measure — For each patient at baseline
  The primary endpoint is the proportion of patients with a positive CPA test on tumour and cervical samples. This is defined as the ratio of the number of patients with a positive test on tumour and cervical samples to the total number of evaluable patients (i.e. those with interpretable test results). The tissue analysis will serve as a negative control for each patient.

Trial sites (1)

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