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Responses to Genetic Risk Modifier Testing Among Women With BRCA1/2 Mutations

Recruiting
Conditions
BRCA1/2
Genetic Testing
Interventions
Other: Salvia sample
Behavioral: Questionnaires
Registration Number
NCT03396341
Lead Sponsor
Memorial Sloan Kettering Cancer Center
Brief 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.

Detailed Description

Not available

Recruitment & Eligibility

Status
RECRUITING
Sex
Female
Target Recruitment
350
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.
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
patients receiving a positive BRCA1/2 mutation resultSalvia sampleAll 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
patients receiving a positive BRCA1/2 mutation resultQuestionnairesAll 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
Primary Outcome Measures
NameTimeMethod
number of patients 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.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (7)

Dana Farber Cancer Institute (Data Collection Only)

🇺🇸

Boston, Massachusetts, United States

Memorial Sloan-Kettering at Basking Ridge

🇺🇸

Basking Ridge, New Jersey, United States

Memorial Sloan Kettering Commack

🇺🇸

Commack, New York, United States

Memorial Sloan Kettering Westchester

🇺🇸

Harrison, New York, United States

Memorial Sloan Kettering Cancer Center

🇺🇸

New York, New York, United States

Memorial Sloan Kettering Nassau

🇺🇸

Uniondale, New York, United States

Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)

🇺🇸

Philadelphia, Pennsylvania, United States

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