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

Memorial Sloan Kettering Cancer Center (MSK)

Status: Enrolling

Conditions: Genetic Testing; BRCA1/2

Treatments: Other: Salvia sample; Behavioral: Questionnaires

Study type: Observational

Funder types: Other

Identifiers

NCT03396341

17-489

Details and patient eligibility

About

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.

Enrollment: 400 estimated patients

Sex: Female

Ages: 25+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

400 participants in 1 patient group

patients receiving a positive BRCA1/2 mutation result

Description:

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

Treatment:

Behavioral: Questionnaires

Other: Salvia sample