NCT03396341 · Memorial Sloan Kettering Cancer Center
Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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:
- 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
- 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.
Where
- Boston, Massachusetts
- Basking Ridge, New Jersey
- Commack, New York
- Harrison, New York
- New York, New York
- Uniondale, New York
- Philadelphia, Pennsylvania
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced May 19, 2026 · Source of record for eligibility and locations