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

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.

Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test (nanopore test) compared with the standard BRCA1/2 test (gold standard).

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.

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.

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.