Genetic TestingNCT03396341
Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
An observational study of Genetic Testing and BRCA1/2, run by Memorial Sloan Kettering Cancer Center at 7 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 25 years and older, women only
- Conditions the study is for
- Genetic Testing, BRCA1/2
- What is being tested?
- Salvia sample, Questionnaires and Buccal swab sample
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 806 participants
- Where
- 7 sitesUnited States
- Study dates
- 4 Jan 2018to Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 25 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Potential participants (i.e., patients receiving a positive BRCA1/2 mutation result) will be identified and approached by their primary genetic counselor.
Who may be able to join
- 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:
Show all 15Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Mark Robson, MD contact
7 sites in 1 country
United States7 sites, 7 recruiting
- Recruiting
Memorial Sloan-Kettering at Basking Ridge
Basking Ridge, New Jersey, 07920
Jada Hamilton, PhD, MPH, 646-888-0049
- Recruiting
Dana Farber Cancer Institute (Data Collection Only)
Boston, Massachusetts, 02115
Judy Garber, MD, MPH, 617-632-5961
- Recruiting
Memorial Sloan Kettering Commack
Commack, New York, 11725
Jada Hamilton, PhD, MPH, 646-888-0049
- Recruiting
Memorial Sloan Kettering Westchester
Harrison, New York, 10604
Jada Hamilton, PhD, MPH, 646-888-0049
- Recruiting
Memorial Sloan Kettering Cancer Center
New York, New York, 10065
Jada Hamilton, PhD, MPH, 646-888-0049
Mark Robson, MD, 646-888-5486
- Recruiting
Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)
Philadelphia, Pennsylvania, 19104-4283
Susan Domchek, MD
- Recruiting
Memorial Sloan Kettering Nassau
Uniondale, New York, 11553
Jade Hamilton, PhD, MPH, 646-888-0049
About this study
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
- Being tested
- Salvia sample, Questionnaires, Buccal swab sample
- Keywords
- BRCA1/2 Mutations, 17-489
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Salvia sampleOther
salvia sample
QuestionnairesBehavioural
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 sampleOther
Buccal swab sample
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: Salvia sample; Behavioral: Questionnaires | |
| Phase 2: | Participants with a pathogenic/likely pathogenic variant in one of the following breast cancer predisposition genes: BRCA1, BRCA2, ATM, CHEK2, PALB2. Receives: Behavioral: Questionnaires; Other: Buccal swab sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jan 2018
- Study start4 Jan 2018
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic TestingStudies of the same condition, open and under way.
- More trials run by Memorial Sloan Kettering Cancer CenterThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 806 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Memorial Sloan Kettering Cancer Center
- Sponsor type
- University, hospital or other
- Collaborators
- Phenogen Sciences
- Responsible party
- Sponsor
- Investigators
- Jada Hamilton, PhD, MPH, Principal investigator, Memorial Sloan Kettering Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03396341
- Sponsor's protocol ID
- 17-489
- Status last verified
- May 2026
- First submitted
- 5 Jan 2018
- Last updated
- 19 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
- ClinicalTrials.gov ID
- NCT03396341
- Acronym / sponsor ID
- 17-489
- Conditions
- Genetic Testing, BRCA1/2
- Keywords
- BRCA1/2 Mutations, 17-489
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 806 participants (estimated)
- Lead sponsor
- Memorial Sloan Kettering Cancer CenterUniversity, hospital or other
- Collaborators
- Phenogen Sciences
- Study start
- 4 Jan 2018 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 10 Jan 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Phase I: patients receiving a positive BRCA1/2 mutation result | – | Other: Salvia sample, Behavioral: QuestionnairesAll 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: | – | Behavioral: Questionnaires, Other: Buccal swab sampleParticipants with a pathogenic/likely pathogenic variant in one of the following breast cancer predisposition genes: BRCA1, BRCA2, ATM, CHEK2, PALB2. |
Who may qualify
- Ages
- 25 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Potential participants (i.e., patients receiving a positive BRCA1/2 mutation result) will be identified and approached by their primary genetic counselor.
Key inclusion criteria (15 listed)
- 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
Key exclusion criteria (8 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Salvia samplesalvia sample | Other | Phase I: patients receiving a positive BRCA1/2 mutation result |
| QuestionnairesParticipants 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 | Behavioural | Phase 2:, Phase I: patients receiving a positive BRCA1/2 mutation result |
| Buccal swab sampleBuccal swab sample | Other | Phase 2: |
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2026.
- Memorial Sloan Kettering Cancer CenterLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Mark Robson, MD contact
Jada Hamilton, PhD, MPH principal investigator
Memorial Sloan Kettering Cancer Center
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Testing and BRCA1/2, run by Memorial Sloan Kettering Cancer Center at 7 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 15 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jada Hamilton, PhD, MPH (646-888-0049, hamiltoj@mskcc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants that opt for preventive mastectomy or to pursue surveillance (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 May 2026.