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PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

Recruiting
Female
Phase N/A

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Overview

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.

Eligibility

Inclusion Criteria:

Availability of gBRCA1/2 test results

Transvaginal pelvic US performed providing at least one picture of one healthy ovary

US images stored in .dicom format.

Exclusion Criteria:

Personal diagnosis of OC

        Ovarian abnormal findings (eg. ovarian endometriomas, dermoid cyst, ovarian
        cystoadenofibroma, ovarian borderline tumour…) with the exception of functional cysts at
        pelvic US
        gBRCA1/2 testing results nor provided by an ISO 1589 accredited laboratory
        Refusal to provide written informed consent

Study details
    BRCA Mutation
    Ovarian Cancer
    Ultrasound Therapy; Complications

NCT05769517

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

27 January 2024

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