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

ConditionsGenetic Testing BRCA1/2

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexFemale

Age25+

SponsorMemorial Sloan Kettering Cancer Center

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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.

Trial population

Potential participants (i.e., patients receiving a positive BRCA1/2 mutation result) will be identified and approached by their primary genetic counselor.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Salvia sample
Other intervention
salvia sample
Questionnaires
Behavioral
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
Other intervention
Buccal swab sample

Treatment groups

806 Participants

are divided into 2 treatment groups

Group A: Phase I: patients receiving a positive BRCA1/2 mutation result2 interventions

Group B: Phase 2:2 interventions

Trial outcomes

Primary outcomes

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.

Time frame

3 years

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Memorial Sloan Kettering Cancer Center

Lead sponsor

Phenogen Sciences

Collaborator

Source ClinicalTrials.gov

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