Recruiting

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

Sponsor:

Memorial Sloan Kettering Cancer Center

Code:

NCT03396341

Conditions

Genetic Testing

BRCA1/2

Eligibility Criteria

Sex: Female

Age: 25+

Healthy Volunteers: Not accepted

Interventions

Salvia sample

Questionnaires

Buccal swab sample

Study Details

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.

Conditions

Genetic Testing

BRCA1/2

Study ID

NCT03396341

Start date

Jan 4, 2018

Status verified date

May, 2026

Completion date

Jan, 2027

Anticipated

Primary completion date

Jan, 2027

Anticipated

Eligibility Criteria

Sex: Female

Age: 25+

Healthy Volunteers: Not accepted

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 Design

Enrollment

806 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Phase 2:

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

Interventions

Salvia sample

salvia sample

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

Buccal swab sample

Primary outcome measure

Number of participants that opt for preventive mastectomy or to pursue surveillance [ Time Frame: 3 years ]

Central Contacts and Locations

Central contacts

Jada Hamilton, PhD, MPH

646-888-0049 hamiltoj@mskcc.org

Mark Robson, MD

646-888-5486

Locations

Dana Farber Cancer Institute (Data Collection Only)

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Judy Garber, MD, MPH

617-632-5961

Memorial Sloan-Kettering at Basking Ridge

Recruiting

Basking Ridge, New Jersey, United States, 07920

Contacts

Jada Hamilton, PhD, MPH

646-888-0049

Memorial Sloan Kettering Commack

Recruiting

Commack, New York, United States, 11725

Contacts

Jada Hamilton, PhD, MPH

646-888-0049

Memorial Sloan Kettering Westchester

Recruiting

Harrison, New York, United States, 10604

Contacts

Jada Hamilton, PhD, MPH

646-888-0049

Memorial Sloan Kettering Cancer Center

Recruiting

New York, New York, United States, 10065

Contacts

Jada Hamilton, PhD, MPH

646-888-0049

Mark Robson, MD

646-888-5486

Principal Investigator:

Jada Hamilton, PhD, MPH

Memorial Sloan Kettering Nassau

Recruiting

Uniondale, New York, United States, 11553

Contacts

Jade Hamilton, PhD, MPH

646-888-0049

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

Recruiting

Philadelphia, Pennsylvania, United States, 19104-4283

More Information

Sponsor

Memorial Sloan Kettering Cancer Center

Last update posted

May 19, 2026

Last verified

May, 2026

Keywords

BRCA1/2 Mutations
17-489

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Memorial Sloan Kettering Cancer Center on 2026-05-19.