PREDICTION OF GERMLINE BRCA 1/2 GENES FROM HEALTHY OVARIES

Fondazione Policlinico Universitario Agostino Gemelli IRCCS1,300 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

1,300

Conditions

BRCA Mutation Ovarian Cancer Ultrasound Therapy; Complications

Interventions

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.

Eligibility

Sex: FEMALEHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Radiogenomics model for predicting germline breast cancer.

Time frame: 36 months