Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes

May 15, 2026 updated by: Memorial Sloan Kettering Cancer Center
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

806

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Mark Robson, MD
  • Phone Number: 646-888-5486

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Dana Farber Cancer Institute (Data Collection Only)
        • Contact:
          • Judy Garber, MD, MPH
          • Phone Number: 617-632-5961
    • New Jersey
      • Basking Ridge, New Jersey, United States, 07920
        • Recruiting
        • Memorial Sloan-Kettering at Basking Ridge
        • Contact:
          • Jada Hamilton, PhD, MPH
          • Phone Number: 646-888-0049
    • New York
      • Commack, New York, United States, 11725
        • Recruiting
        • Memorial Sloan Kettering Commack
        • Contact:
          • Jada Hamilton, PhD, MPH
          • Phone Number: 646-888-0049
      • Harrison, New York, United States, 10604
        • Recruiting
        • Memorial Sloan Kettering Westchester
        • Contact:
          • Jada Hamilton, PhD, MPH
          • Phone Number: 646-888-0049
      • New York, New York, United States, 10065
        • Recruiting
        • Memorial Sloan Kettering Cancer Center
        • Contact:
          • Jada Hamilton, PhD, MPH
          • Phone Number: 646-888-0049
        • Principal Investigator:
          • Jada Hamilton, PhD, MPH
        • Contact:
          • Mark Robson, MD
          • Phone Number: 646-888-5486
      • Uniondale, New York, United States, 11553
        • Recruiting
        • Memorial Sloan Kettering Nassau
        • Contact:
          • Jade Hamilton, PhD, MPH
          • Phone Number: 646-888-0049
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104-4283
        • Recruiting
        • Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)
        • Contact:
          • Susan Domchek, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

25 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
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 sample
salvia sample
Behavioral: 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
Phase 2:
Participants with a pathogenic/likely pathogenic variant in one of the following breast cancer predisposition genes: BRCA1, BRCA2, ATM, CHEK2, PALB2.
Behavioral: 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
Other: Buccal swab sample
Buccal swab sample

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of participants that opt for preventive mastectomy or to pursue surveillance
Time Frame: 3 years
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Memorial Sloan Kettering Cancer Center

Collaborators

Phenogen Sciences

Investigators

  • Principal Investigator: Jada Hamilton, PhD, MPH, Memorial Sloan Kettering Cancer Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 4, 2018

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Study Registration Dates

First Submitted

January 5, 2018

First Submitted That Met QC Criteria

January 5, 2018

First Posted (Actual)

January 10, 2018

Study Record Updates

Last Update Posted (Actual)

May 19, 2026

Last Update Submitted That Met QC Criteria

May 15, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 17-489

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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