Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations

Study Overview
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Brief Summary
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The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.

Official Title
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Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations

Conditions
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Genetic Testing, BRCA1/2

Intervention / Treatment
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* Other: Salvia sample
* Behavioral: Questionnaires


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Female patient, age 25 years or older (given that women under this age are not generally recommended to receive BRCA1/2 genetic testing) Completed full sequence or targeted genetic testing with a clinically confirmed BRCA1 or BRCA2 deleterious mutation identified No personal history of breast cancer English-fluent; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys. Exclusion Criteria: Previous receipt of any prophylactic mastectomy. Major psychiatric illness or cognitive impairment that in the judgment of the study investigators or study staff would preclude study participation. Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff.

Ages Eligible for Study
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Minimum Age: 25 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| patients receiving a positive BRCA1/2 mutation result<br>All interested participants will provide a saliva sample for genetic risk modifier testing, and will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system | Other: Salvia sample<br>* salvia sample<br>Behavioral: Questionnaires<br>* Participants will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| number of patients that opt for preventive mastectomy or to pursue surveillance | Hierarchical level modeling (HLM) will be implemented to assess the effect of genetic risk modifier testing on Decisional Conflict Scale score (DCS), allowing for baseline effects via a random intercept. | 3 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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BRCA1/2 Mutations, 17-489