NCT03396341

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

77
On Track

Trial Health Score

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

Enrollment
806

participants targeted

Target at P75+ for all trials

Timeline
5mo 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

Study Progress95%
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

May 19, 2026

Status Verified

May 1, 2026

Enrollment Period

9 years

First QC Date

January 5, 2018

Last Update Submit

May 15, 2026

Conditions

Genetic TestingBRCA1/2

Keywords

BRCA1/2 Mutations17-489

Outcome Measures

Primary Outcomes (1)

  • Number of participants 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 (2)

Phase I: 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

Phase 2:

Participants with a pathogenic/likely pathogenic variant in one of the following breast cancer predisposition genes: BRCA1, BRCA2, ATM, CHEK2, PALB2.

Behavioral: QuestionnairesOther: Buccal swab sample

Interventions

Salvia sampleOTHER

salvia sample

Phase I: 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

Phase 2:Phase I: patients receiving a positive BRCA1/2 mutation result
Buccal swab sampleOTHER

Buccal swab sample

Phase 2:

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:

  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

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

Related Links

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

646-888-0049hamiltoj@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

May 19, 2026

Record last verified: 2026-05

Locations

US(7)