NCT05769517

Prediction of Germline BRCA 1/2 Genes From Healthy Ovaries

Prediction of Germline BRCA 1/2 Genes Pathogenetic Variants From Healthy Ovaries Ultrasound Images: Radiogenomics as an Innovative Tool to Prevent BRCA-related Cancers

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,300 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: Female
• Age: —
• Healthy volunteers: Accepted

Summary

The project aims at enhancing performance metrics and prospectively validating a radiogenomics model based on ovarian US images for predicting germline breast cancer susceptibility gene 1 and/or 2 (BRCA) status in women with healthy ovaries. The project is divided in two operational phases: Retrospective phase AIM 1: To define and implement a proper and fine-tuned image preprocessing pipeline on the existing dataset; AIM 2: To enlarge dataset size with new real images from different centers and apply data augmentation techniques, deep neural network models combined with the aforementioned handcrafted imaging features from radiomics analysis; Prospective phase AIM 3: To further cross-validate the predictive model on US images acquired prospectively in an observational multicenter study.

Conditions

• BRCA Mutation
• Ovarian Cancer
• Ultrasound Therapy; Complications

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Germinal BRCA	We will conduct a multicenter prospective observational study aimed at automatically implementing the predictive model and collecting US images of healthy ovaries from patients tested for germline BRCA pathogenetic variants according to current indications.

Timeline

• Start date: 2023-03-20
• Primary completion: 2024-04-01
• Completion: 2031-03-08
• First posted: 2023-03-15
• Last updated: 2026-04-13

Locations

1 site across 1 country: Italy