Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners (TURBO)

The time taken to obtain the results of germline mutations in BRCA1 and BRCA2 has become a major issue in adapting the therapeutic management of patients, particularly those with breast cancer.

The time taken to obtain the results of BRCA1/2 tests in routine laboratories with a view to personalised treatment can range from a few weeks to a few months. The waiting time required to obtain results is likely to cause stress and anxiety in cancer patients. The investigators hypothesise that ultra-rapid testing can reduce anxiety about patients' genetic status and improve their mental well-being.

The main objective of this project is to compare the results obtained with an ultra-fast kit developed by O.N.T with those obtained with the current gold standard, NGS sequencing.

Study Overview

• Status: Recruiting
• Conditions: Breast Cancer
• Intervention / Treatment: Other: Questionnaires; Other: Communication of the results of the BRCA1/2 ultra rapid test

• Study Type: Observational
• Enrollment (Estimated): 150

Contacts and Locations

• Study Contact: Name: Manon REDA, Dr; Phone Number: +33 03.80.73.75.00; Email: mreda@cgfl.fr
• Study Contact Backup: Name: Emilie REDERSTORFF, Project Manager; Phone Number: +33 03 45 34 81 16; Email: erederstorff@cgfl.fr

Study Locations

• France
  • Dijon, France, 21000
    • Recruiting
    • Centre Georges-Francois Leclerc
    • Contact: Emilie REDERSTORFF; Phone Number: 03 45 34 81 16; Email: erederstorff@cgfl.fr
    • Contact: Manon REDA, Dr; Phone Number: 03 80 73 75 00; Email: mreda@cgfl.fr
  • Levallois-perret, France, 92300
    • Recruiting
    • Institut Rafael
    • Contact: Pascal PUJOL, Pr; Phone Number: 01 84 00 70 07; Email: p-pujol@chu-montpellier.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Breast cancer with an indication for theranostic BRCA1/2 analysis or diagnostic BRCA1/2 analysis

Description

Inclusion Criteria:

• Age ≥ 18 years
• Indication for oncogenetic consultation with a wide panel test including BRCA1/2 (gold standard) as part of the standard theranostic and diagnostic management of breast cancer.
• The patient agrees to take part in the study, to follow all the study procedures and to complete the questionnaires sent during the consultation or by email.
• Diagnosis of the disease ≤ 6 months
• The patient must be affiliated to the social security system.

Exclusion Criteria:

• Concomitant disorder or condition likely to compromise understanding of study information or completion of questionnaires
• Patients who do not have an email address and/or do not have internet access or tools to connect to the internet
• Women who are pregnant, may become pregnant or are breast-feeding
• Persons deprived of their liberty or under guardianship (including curatorship)
• Inability to undergo trial monitoring for geographical, social or psychological reasons.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Standard arm; Analysis carried out using the gold standard with BRCA1/2 results provided on average in 2 months for the theranostic analysis and 3 months for the "standard" analysis + ultrafast BRCA1/2 test (nanopore test) with no communication of results to the patient at 1-2 weeks.	Other: Questionnaires; 3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients : STAI-Y (State-Trait Anxiety Inventory); Patient's Questionnaire; Practitioner's questionnaire
Experimental arm; Analysis carried out using the gold standard with BRCA1/2 results provided in an average of 2 months for the theranostic analysis and 3 months for the "standard" analysis + ultra-rapid BRCA1/2 test (nanopore test) with results communicated to the patient in 1-2 weeks. This communication will be accompanied by the necessary explanations to enable the patient to understand that this is a preliminary result and that only the gold standard will constitute a definitive result.	Other: Questionnaires; 3 questionnaires to allowed to assess satisfaction and acceptance of the nanopore ultrafast test by practitioners and anxiety of results by patients : STAI-Y (State-Trait Anxiety Inventory); Patient's Questionnaire; Practitioner's questionnaire; Other: Communication of the results of the BRCA1/2 ultra rapid test; Communication of the results of the BRCA1/2 ultra rapid test during a consultation 1 to 2 weeks after the test

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Compare the results obtained with an ultra-rapid kit BRCA1/2 with those obtained with the current gold standard, by checking the sensitivity, specificity and the rate of patients correctly classified for BRCA1 and 2 status	The main objective will be to determine the rate of misclassified patients by pooling the 2 arms, false positives and false negatives.; True positives (VP) : patients presenting a BRCA 1 or 2 mutation with the ultrafast BRCA1/2 test and the gold standard.; False positives (FP) : patients with a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and no BRCA 1 or 2 mutation using the gold standard.; True negatives (VN) : patients with no BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and the gold standard.; False negatives (FN) : patients without a BRCA 1 or 2 mutation using the BRCA1/2 ultrafast test and with a BRCA 1 or 2 mutation using the standard test. WELL classified = VP + VN, poorly classified= FP+ FN FPs will generate anxiety, and FNs will lead to a loss of chance for patients if the ultrafast BRCA1/2 test (nanopore test) is used exclusively instead of the gold standard. The overall number of misclassified patients must therefore be limited.	During 2 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test	Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test (nanopore test) compared with the standard BRCA1/2 test (gold standard).	During 2 months
Evaluate clinician satisfaction with satisfaction scale used in genetic counselling	Clinician satisfaction (oncogeneticist and oncologist) and acceptance of the BRCA1/2 ultrafast test (nanopore test) will be evaluated in both arms using a questionnaire to assess clinician satisfaction at 2 different times for each practitioner involved in patient follow-up: When the first patient is unopposed;; At the last patient's discharge.	During 2 months
To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y)	Anxiety will be assessed in each arm using the State-Trait Anxiety Questionnaire (STAI-Y) at 4 different time points: After the patient has not objected to taking part in the TURBO study at the first consultation (before randomization);; 1-2 weeks after inclusion. The questionnaire will be e-mailed to patients. The questionnaire must be completed before the results of the BRCA1/2 ultrafast test (nanopore test) are communicated to patients in the experimental group.; 4 weeks after inclusion. The questionnaire will be sent by email.; 8 - 12 weeks after inclusion, during the consultation for the communication of test results with the gold standard, before the communication of results.	During 2 months
Evaluate patient satisfaction used in genetic counselling	Patient satisfaction will be assessed in both arms using a satisfaction scale used in genetic counselling at two different times: After the patient has made no objection to participating in the TURBO study during the first consultation (before randomization);; 8 - 12 weeks after inclusion, before the consultation for the gold standard test results.	During 2 months

Collaborators and Investigators

• Sponsor: Centre Georges Francois Leclerc

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2024
• Primary Completion (Estimated): September 12, 2026
• Study Completion (Estimated): September 12, 2026

Study Registration Dates

• First Submitted: October 20, 2023
• First Submitted That Met QC Criteria: October 26, 2023
• First Posted (Actual): November 1, 2023

Study Record Updates

• Last Update Posted (Actual): April 22, 2025
• Last Update Submitted That Met QC Criteria: April 17, 2025
• Last Verified: April 1, 2025

More Information

Terms related to this study

• Keywords: breast cancer; BRCA 1/2
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Breast Neoplasms
• Other Study ID Numbers: 2023-A02176-39

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No