Predicting BRCA gene status from healthy ovarian ultrasound images

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

Observational Fondazione Policlinico Universitario Agostino Gemelli IRCCS · NCT05769517

This study is testing if ultrasound images of healthy ovaries can help predict whether women carry the BRCA gene that increases their risk for breast cancer.

Quick facts

Study typeObservational
Enrollment6465 (estimated)
SexFemale
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other
Locations1 site (Rome)
Trial IDNCT05769517 on ClinicalTrials.gov

What this trial studies

This project aims to enhance the prediction of germline BRCA1/2 gene status in women with healthy ovaries using ultrasound images. It consists of two phases: a retrospective phase that focuses on refining image processing and expanding the dataset with new images, and a prospective phase that validates the predictive model through an observational multicenter study. The study employs advanced techniques such as deep neural networks and radiomics analysis to improve accuracy in predicting breast cancer susceptibility.

Who should consider this trial

Good fit: Ideal candidates are women with healthy ovaries who have undergone transvaginal pelvic ultrasound and have available gBRCA1/2 test results.

Not a fit: Patients with a personal diagnosis of ovarian cancer or those with abnormal ovarian findings will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a non-invasive method for identifying women at risk for breast cancer based on ovarian imaging.

How similar studies have performed: While similar predictive models have been explored, this specific approach using ultrasound images and radiogenomics is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
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

Where this trial is running

Rome

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions BRCA MutationOvarian CancerUltrasound TherapyComplications
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.