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

Recruiting

• Conditions: BRCA1/2; Genetic Testing

• 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

Study Timeline

• Study Start: 2018-01-04
• Study First Submitted: 2018-01-05
• Study First Submitted QC: 2018-01-05
• Study First Posted: 2018-01-10
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-05
• Last Update Posted: 2025-02-07
• Primary Completion: 2026-01
• Study Completion: 2026-01

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

Primary Outcome Measures

Name	Time	Method
number of patients that opt for preventive mastectomy or to pursue surveillance	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.

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