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

6,465 participants

Start Date

Mar 20, 2023

Study Type

OBSERVATIONAL

Conditions

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: Model development phase (ambispective) 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; Implementation and validation phase (prospective) AIM 3: To further cross-validate the predictive model on US images acquired prospectively in an observational multicenter study.


Eligibility

Sex: FEMALE

Plain Language Summary

Simplified for easier understanding

This study is using ultrasound images of the ovaries to develop a tool that can predict whether a woman carries a BRCA1 or BRCA2 gene mutation — genetic changes that significantly increase the risk of ovarian and breast cancer. **You may be eligible if...** - You have a known BRCA1 or BRCA2 genetic test result available - You have had a transvaginal pelvic ultrasound showing at least one healthy ovary - Your ultrasound images are stored in the standard DICOM digital format - Your genetic testing was performed by an accredited laboratory **You may NOT be eligible if...** - You have been personally diagnosed with ovarian cancer - Your ultrasound showed abnormal ovarian findings (other than simple functional cysts) - Your genetic testing was not performed by an accredited laboratory - You decline to provide written informed consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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.


Locations(1)

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Rome, Italy

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NCT05769517


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