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Study explores how genetic risk info shapes BRCA Carriers' health choices

NCT ID NCT03396341

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 806 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2018

Expected to finish

Jan 2027

An estimate. End dates often move.

Lead sponsor

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

25 years and older

Sex

Female participants only

Healthy volunteers

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

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.

  1. The places running it

    7 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

  • Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)

    RECRUITING

    Philadelphia, Pennsylvania, 19104-4283, United States

  • Dana Farber Cancer Institute (Data Collection Only)

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Memorial Sloan Kettering Cancer Center

    RECRUITING

    New York, New York, 10065, United States

  • Memorial Sloan Kettering Commack

    RECRUITING

    Commack, New York, 11725, United States

  • Memorial Sloan Kettering Nassau

    RECRUITING

    Uniondale, New York, 11553, United States

  • Memorial Sloan Kettering Westchester

    RECRUITING

    Harrison, New York, 10604, United States

  • Memorial Sloan-Kettering at Basking Ridge

    RECRUITING

    Basking Ridge, New Jersey, 07920, United States

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