Understanding how women with BRCA1/2 mutations respond to genetic risk testing
Official title: Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
Run by Memorial Sloan Kettering Cancer Center · NCT03396341 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 25 Years and up |
| Sex | Women only |
| Enrollment | 806 (estimated) |
| Sponsor | Memorial Sloan Kettering Cancer Center Academic / other |
| Locations | 7 sites (Boston, Massachusetts and 6 other locations) |
| Status | Recruiting |
| Started | January 4, 2018 |
| Main results expected | January 2027 |
| Study ends | January 2027 |
| Registry record updated | May 19, 2026 |
| Trial ID | NCT03396341 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients who have undergone prophylactic mastectomy or have significant psychiatric or cognitive impairments may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: Phase I: * 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. Phase 2: * Female sex * Completed germline genetic testing with one clinically confirmed pathogenic/likely pathogenic variant in either of the following genes and with the associated age minimums: * BRCA1 and currently age 25 years or older * BRCA2 and currently age 25 years or older * ATM (all pathogenic/likely pathogenic variants EXCEPT for the variant ATM c.7271T\>G \[p.Val2424Gly\]) and currently age 30 years or older * CHEK2 (all pathogenic/likely pathogenic variants EXCEPT for the variants CHEK2 c.470T\>C \[p.Ile157Thr ; I157T\] and CHEK2 c.1283C\>T\[p.Ser428Phe ; p.S428F\] and CHEK2 c.1427C\>T \[p.Thr476Met\]) and currently age 30 years or older * PALB2 and currently age 30 years or older * No personal history of breast cancer * English-fluent based on self-report or the EMR; 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: Phase I: * 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. Phase 2: * Previous receipt of any prophylactic mastectomy. * Major untreated psychiatric illness or cognitive impairment that would preclude study participation. * Any patients who participated and received genetic risk modifier test results from Phase 1 of this protocol.
Where it's running
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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
Show 1 more location
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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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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This study tests a short set of information cards delivered on a phone to help pregnant people decide about prenatal screening.
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How people make decisions about prostate cancer risk
This study will test how men assigned male at birth aged 45–70 with BRCA1/2 mutations respond to genetic risk modifier testing and whether it changes their prostate cancer screening choices and feelings about care.
-
Genetic testing for cancer risk in women visiting gynecology clinics
This study is testing if offering genetic testing for cancer risk during gynecology visits is helpful and accepted by women aged 25-39.
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Improving genetic education and testing for Black cancer survivors
This study is testing whether a chatbot can help Black cancer survivors learn more about genetic testing and encourage them to get tested compared to regular care.
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.