RecruitingNCT05769517

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

Sponsor

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Enrollment

1,300 participants

Start Date

Mar 20, 2023

Study Type

OBSERVATIONAL

Conditions

Ovarian Cancer BRCA Mutation Ultrasound Therapy; Complications

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.

Eligibility

Sex: FEMALE

Inclusion Criteria3

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 Criteria4

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

Interventions

DIAGNOSTIC_TESTGerminal 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.