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

NCT ID: NCT03396341

Last Updated: 2025-02-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

400 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-01-04

Study Completion Date

2026-01-31

Brief Summary

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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.

Detailed Description

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Conditions

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Genetic Testing BRCA1/2

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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patients receiving a positive BRCA1/2 mutation result

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

Salvia sample

Intervention Type OTHER

salvia sample

Questionnaires

Intervention Type BEHAVIORAL

Participants 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

Interventions

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Salvia sample

salvia sample

Intervention Type OTHER

Questionnaires

Participants 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

Intervention Type BEHAVIORAL

Eligibility Criteria

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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.
Minimum Eligible Age

25 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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Phenogen Sciences

UNKNOWN

Sponsor Role collaborator

Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jada Hamilton, PhD, MPH

Role: PRINCIPAL_INVESTIGATOR

Memorial Sloan Kettering Cancer Center

Locations

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Dana Farber Cancer Institute (Data Collection Only)

Boston, Massachusetts, United States

Site Status RECRUITING

Memorial Sloan-Kettering at Basking Ridge

Basking Ridge, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Commack

Commack, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Westchester

Harrison, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Nassau

Uniondale, New York, United States

Site Status RECRUITING

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

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Jada Hamilton, PhD, MPH

Role: CONTACT

646-888-0049

Mark Robson, MD

Role: CONTACT

646-888-5486

Facility Contacts

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Judy Garber, MD, MPH

Role: primary

617-632-5961

Jada Hamilton, PhD, MPH

Role: primary

646-888-0049

Jada Hamilton, PhD, MPH

Role: primary

646-888-0049

Jada Hamilton, PhD, MPH

Role: primary

646-888-0049

Jada Hamilton, PhD, MPH

Role: primary

646-888-0049

Mark Robson, MD

Role: backup

646-888-5486

Jade Hamilton, PhD, MPH

Role: primary

646-888-0049

Susan Domchek, MD

Role: primary

Related Links

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http://www.mskcc.org/mskcc/html/44.cfm

Memorial Sloan Kettering Cancer Center

Other Identifiers

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17-489

Identifier Type: -

Identifier Source: org_study_id

NCT04943250

Identifier Type: -

Identifier Source: nct_alias

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