Brief Summary

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.

Trial Health

On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment

400

participants targeted

Target at P75+ for all trials

Timeline

7mo left

Started Jan 2018

Longer than P75 for all trials

Geographic Reach

1 country

7 active sites

Status

recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

9 years study duration

Study Progress93%

Jan 2018Jan 2027

Study Start

First participant enrolled

January 4, 2018

Completed

1 day until next milestone

First Submitted

Initial submission to the registry

January 5, 2018

Completed

5 days until next milestone

First Posted

Study publicly available on registry

January 10, 2018

Completed

9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2027

Expected

Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2027

Last Updated

February 9, 2026

Status Verified

February 1, 2026

Enrollment Period

9 years

First QC Date

January 5, 2018

Last Update Submit

February 5, 2026

Conditions

Genetic Testing BRCA1/2

Keywords

BRCA1/2 Mutations17-489

Outcome Measures

Primary Outcomes (1)

number of patients that opt for preventive mastectomy or to pursue surveillance
Hierarchical level modeling (HLM) will be implemented to assess the effect of genetic risk modifier testing on Decisional Conflict Scale score (DCS), allowing for baseline effects via a random intercept.
3 years

Study Arms (1)

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

Other: Salvia sampleBehavioral: Questionnaires

Interventions

Salvia sampleOTHER

salvia sample

patients receiving a positive BRCA1/2 mutation result

QuestionnairesBEHAVIORAL

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

patients receiving a positive BRCA1/2 mutation result

Eligibility Criteria

Age25 Years+

Sexfemale(Gender-based eligibility)

Gender Eligibility DetailsBRACA 1/2 mutation carriers

Healthy VolunteersNo

Age GroupsAdult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Potential participants (i.e., patients receiving a positive BRCA1/2 mutation result) will be identified and approached by their primary genetic counselor.

You may qualify if:

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.

You may not qualify if:

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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Memorial Sloan Kettering Cancer Centerlead
Phenogen Sciencescollaborator

Study Sites (7)

Dana Farber Cancer Institute (Data Collection Only)

Boston, Massachusetts, 02115, United States

RECRUITING

Memorial Sloan-Kettering at Basking Ridge

Basking Ridge, New Jersey, 07920, United States

RECRUITING

Memorial Sloan Kettering Commack

Commack, New York, 11725, United States

RECRUITING

Memorial Sloan Kettering Westchester

Harrison, New York, 10604, United States

RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, 10065, United States

RECRUITING

Memorial Sloan Kettering Nassau

Uniondale, New York, 11553, United States

RECRUITING

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

Philadelphia, Pennsylvania, 19104-4283, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

saliva sample

MeSH Terms

Interventions

Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Data CollectionEpidemiologic MethodsInvestigative TechniquesHealth Care Evaluation MechanismsQuality of Health CareHealth Care Quality, Access, and EvaluationPublic HealthEnvironment and Public Health

Study Officials

Jada Hamilton, PhD, MPH
Memorial Sloan Kettering Cancer Center
PRINCIPAL INVESTIGATOR

Central Study Contacts

Jada Hamilton, PhD, MPH

CONTACT

646-888-0049 hamiltoj@mskcc.org

Mark Robson, MD

CONTACT

646-888-5486

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: PROSPECTIVE
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

January 5, 2018

First Posted

January 10, 2018

Study Start

January 4, 2018

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Last Updated

February 9, 2026

Record last verified: 2026-02

Locations

US(7)

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

Brief Summary

Trial Health

Trial Health Score

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Study Arms (1)

patients receiving a positive BRCA1/2 mutation result

Interventions

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (7)

Related Links

Biospecimen

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

Locations

Brief Summary

Trial Health

Trial Health Score

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Study Arms (1)

patients receiving a positive BRCA1/2 mutation result

Interventions

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (7)

Related Links

Biospecimen

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Central Study Contacts

Study Design

Study Record Dates

Locations