Study explores how genetic risk info shapes BRCA Carriers' health choices
NCT ID NCT03396341
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at how women with BRCA1 or BRCA2 gene mutations respond to learning about additional genetic risk factors. Researchers will follow about 800 women who have not had breast cancer, asking them to complete questionnaires and provide saliva or cheek swab samples. The goal is to see how this extra genetic information affects their decisions about preventive surgeries or cancer screening.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help doctors better understand how genetic risk information influences women's choices about breast cancer prevention, potentially improving counseling and decision-making support.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly improve health outcomes. Results may not apply to non-English speakers or women under 25.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 806 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2018
- Expected to finish
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Jan 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Potential participants (i.e., patients receiving a positive BRCA1/2 mutation result) will be identified and approached by their primary genetic counselor.
- Ages
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25 years and older
- Sex
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Female participants only
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
7 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)
RECRUITINGPhiladelphia, Pennsylvania, 19104-4283, United States
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Dana Farber Cancer Institute (Data Collection Only)
RECRUITINGBoston, Massachusetts, 02115, United States
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Memorial Sloan Kettering Cancer Center
RECRUITINGNew York, New York, 10065, United States
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Memorial Sloan Kettering Commack
RECRUITINGCommack, New York, 11725, United States
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Memorial Sloan Kettering Nassau
RECRUITINGUniondale, New York, 11553, United States
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Memorial Sloan Kettering Westchester
RECRUITINGHarrison, New York, 10604, United States
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Memorial Sloan-Kettering at Basking Ridge
RECRUITINGBasking Ridge, New Jersey, 07920, United States
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