Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes
Recruiting
Observational Study
Genetic TestingBRCA1/2
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Age
25 and older
Sex
Female
Study type
Observational
Participants needed
806 (estimated)
Sponsor
Memorial Sloan Kettering Cancer Center · Other
Who this trial is looking for
This trial is looking for women with certain genetic mutations related to breast cancer. Participants will respond to tests that help understand their healthcare decisions.
Are You a Good Fit for This Trial?
You may be able to join if
I am a female, 25 years or older.
I have a confirmed BRCA1 or BRCA2 mutation.
I have never had breast cancer.
I can communicate in English.
I have a confirmed pathogenic variant in specific breast cancer genes in Phase 2.
You may not be able to join if
I have had any breast removal surgery to prevent cancer.
I have a serious psychiatric illness that prevents me from participating.
I cannot follow the study procedures as required.
I participated in the first phase of this trial.
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer three quick questions written from this study's own rules to see if you may qualify. No account needed to find out.
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.
Trial Locations
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Status
Eligibility Criteria
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
*…
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.
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