Evaluation of Polygenic Risk Score for Epithelial OVarian cancEr Risk Prediction: the PROVE Study

NCT ID: NCT06935344

Last Updated: 2025-08-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-06-01

Study Completion Date

2026-12-01

Brief Summary

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The goal of this observational study is to evaluate whether polygenic risk score (PRS) assessment can help predict the onset of epithelial ovarian cancer in women aged over 18, comparing those with a histologically confirmed diagnosis of epithelial ovarian or fallopian tube cancer (cases) to women with no personal history of ovarian cancer (controls). The main questions it aims to answer are:

* Is there an association between PRS and the presence of epithelial ovarian cancer?
* Can PRS improve the prediction of ovarian cancer risk when adjusted for other clinical factors?

Researchers will compare PRS values between cases and controls to see if higher PRS percentiles are associated with an increased risk of ovarian cancer.

Participants will:

* Complete a questionnaire on socio-economic status, lifestyle, and dietary habits.
* Undergo blood sampling, for the analysis of BRCA1-2, PALB2, RAD51C, RAD51D pathogenic variants.
* Undergo PRS analysis.

Detailed Description

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Conditions

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Ovarian Cancer

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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CASES: women with ovarian cancer

Patients with histologically proven epithelial ovarian and fallopian tube cancer (referred to as cases), consecutively enrolled in the Ovarian Carcinoma Complex Operative Unit of Policlinico Gemelli.

Polygenic Risk Score

Intervention Type GENETIC

For the PRS analysis, SNPs for genotyping will be selected based on the latest findings from GWAS on EOC, particularly leveraging the results, as reported by Dareng et al. (doi:10.1038/s41431-021-00987-7). The PRS will be calculated as a weighted sum of risk alleles based on the selected SNPs.

CONTROLS: Healthy women

Women with no previous or concomitant personal history of OC (referred as controls), consecutively enrolled in the Rheumatology Complex Operative Unit of Policlinico Gemelli.

Polygenic Risk Score

Intervention Type GENETIC

For the PRS analysis, SNPs for genotyping will be selected based on the latest findings from GWAS on EOC, particularly leveraging the results, as reported by Dareng et al. (doi:10.1038/s41431-021-00987-7). The PRS will be calculated as a weighted sum of risk alleles based on the selected SNPs.

Interventions

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Polygenic Risk Score

For the PRS analysis, SNPs for genotyping will be selected based on the latest findings from GWAS on EOC, particularly leveraging the results, as reported by Dareng et al. (doi:10.1038/s41431-021-00987-7). The PRS will be calculated as a weighted sum of risk alleles based on the selected SNPs.

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* For cases: women with a first-time diagnosis of histologically confirmed epithelial ovarian or fallopian tube cancer.
* For Controls women with no concomitant or past OC diagnosis.

Exclusion Criteria

* For both cases and controls: the presence of concurrent malignancies other from OC.
Minimum Eligible Age

18 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role lead

Responsible Party

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Boccia Stefania

Full Professor of Hygiene and Preventive Medicine

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Dipartimento Universitario di Scienze della Vita e Sanità Pubblica

Roma, Italia, Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Stefania Boccia

Role: CONTACT

+39 0630154396

Facility Contacts

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Stefania Boccia

Role: primary

0630154396

Other Identifiers

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7225

Identifier Type: -

Identifier Source: org_study_id

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