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Understanding Responses to Genetic Risk Modifier Testing in Women with BRCA1/2 Mutations

This observational study is looking at how women with changes (mutations) in their BRCA1 or BRCA2 genes react to genetic risk modifier testing. It also wants to understand how these women make decisions about their healthcare. You might be able to join if you are a woman aged 25 or older, have a confirmed BRCA1 or BRCA2 mutation, have not had breast cancer, and speak English. The study involves providing saliva or buccal swab samples and completing questionnaires. Researchers will measure how many participants choose to have a preventive mastectomy (surgery to remove breasts to prevent cancer) or decide to have regular check-ups (surveillance) over three years. The study plans to enroll 806 participants, but its current status is unclear.

Study design
This is an observational study with a planned enrollment of 806 women. It is not a treatment study but aims to understand reactions and decisions.
What's involved
You would provide saliva or buccal swab samples and complete three sets of questionnaires over about six months.
Compensation
Not stated in the trial record.
Follow-up
Participants' decisions regarding preventive mastectomy or surveillance will be measured at 3 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03396341

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

Recruiting
Not specifiedAges 25+Observational
Memorial Sloan Kettering Cancer Center
~806 participants
Updated 2026-05-19 on ClinicalTrials.gov
What's tested:Salvia sampleQuestionnairesBuccal swab sample

At a glance

Recruiting sites
7 of 7 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of participants that opt for preventive mastectomy or to pursue surveillance
Measured over 3 years

Conditions

Genetic Testing
BRCA1/2

Explore related trials

Genetic Predisposition to Malignant NeoplasmATM GeneBRCA1 GeneBRCA2 GenePartner and Localizer of BRCA2Serine/Threonine-Protein Kinase Chk2

Where it's being run

7 sites across 4 states
New York4
Massachusetts1
New Jersey1
Pennsylvania1

Study leadership

  • Jada Hamilton, PhD, MPH · PRINCIPAL_INVESTIGATOR · Memorial Sloan Kettering Cancer Center

Who to contact

Jada Hamilton, PhD, MPH
[email protected]
646-888-0049
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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.
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

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.
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.

What this trial measures

  • Number of participants that opt for preventive mastectomy or to pursue surveillance3 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.