Clinical trial NCT06111417: Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners
Official title: Use of an Ultra-rapid BRCA1/2 Status Screening Test in Diagnostic and Theranostic Indication: Performance and Interest for Patients and Practitioners
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Breast Cancer
Keywords: BRCA 1/2
breast cancer
Lead sponsor: Centre Georges Francois Leclerc
Sponsor class: OTHER
First posted: 2023-11-01
Enrollment: 150
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Breast cancer with an indication for theranostic BRCA1/2 analysis or diagnostic BRCA1/2 analysis

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: 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
timeFrame: During 2 months
Secondary outcomes:
measure: Evaluate the sensitivity and specificity of the ultra-rapid BRCA1/2 test
timeFrame: During 2 months
measure: To assess the impact on patients' mental well-being (anxiety or reassurance) using the State-Trait Anxiety Questionnaire (STAI-Y)
timeFrame: During 2 months
measure: Evaluate clinician satisfaction with satisfaction scale used in genetic counselling
timeFrame: During 2 months
measure: Evaluate patient satisfaction used in genetic counselling
timeFrame: During 2 months
Other outcomes:
Locations:
city: Dijon
country: France
facility: Centre Georges-François Leclerc
city: Levallois-perret
country: France
facility: Institut Rafaël
Study officials:
References: