Understanding how women with BRCA1/2 mutations respond to genetic risk testing
Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations
This study looks at how women with BRCA1/2 mutations feel about genetic risk testing and how it affects their healthcare choices.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 25 Years and up |
| Sex | Female |
| Sponsor | Memorial Sloan Kettering Cancer Center Academic / other |
| Locations | 7 sites (Boston, Massachusetts and 6 other locations) |
| Trial ID | NCT03396341 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the reactions of women with BRCA1/2 mutations to genetic risk modifier testing and how these reactions influence their healthcare decisions. Participants will provide saliva samples and complete questionnaires to gather data on their experiences and decision-making processes. The study focuses on women aged 25 and older who have a confirmed deleterious mutation but no personal history of breast cancer. The findings could provide insights into the psychological and social impacts of genetic testing.
Who should consider this trial
Good fit: Ideal candidates are women aged 25 years or older with a confirmed BRCA1 or BRCA2 mutation and no personal history of breast cancer.
Not a fit: Patients who have undergone prophylactic mastectomy or have significant psychiatric or cognitive impairments may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of patient responses to genetic risk testing, leading to improved support and decision-making resources for women with BRCA1/2 mutations.
How similar studies have performed: While this study focuses on a specific population, similar studies on genetic testing responses have shown promising insights into patient decision-making and psychological impacts.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Boston, Massachusetts and 6 other locations
- Dana Farber Cancer Institute (Data Collection Only) — Boston, Massachusetts, United States (Recruiting)
- Memorial Sloan-Kettering at Basking Ridge — Basking Ridge, New Jersey, United States (Recruiting)
- Memorial Sloan Kettering Commack — Commack, New York, United States (Recruiting)
- Memorial Sloan Kettering Westchester — Harrison, New York, United States (Recruiting)
- Memorial Sloan Kettering Cancer Center — New York, New York, United States (Recruiting)
- Memorial Sloan Kettering Nassau — Uniondale, New York, United States (Recruiting)
- Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only) — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Jada Hamilton, PhD, MPH — Memorial Sloan Kettering Cancer Center
- Study coordinator: Jada Hamilton, PhD, MPH
- Email: hamiltoj@mskcc.org
- Phone: 646-888-0049
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.