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

Genetic Testing Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03396341
• Other study ID #: 17-489
• Status: Recruiting
• Start date: January 4, 2018
• Est. completion date: January 2025

Study information

• Verified date: February 2024
• Source: Memorial Sloan Kettering Cancer Center
• Contact: Jada Hamilton, PhD, MPH
• Phone: 646-888-0049
• Email: hamiltoj[@]mskcc.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Other known NCT identifiers

• NCT04943250

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 350
• Est. completion date: January 2025
• Est. primary completion date: January 2025
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 25 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• BRCA1/2
• Genetic Testing

Intervention

Other:
• Salvia sample
salvia sample

Behavioral:
• Questionnaires
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

Locations

Country	Name	City	State
United States	Memorial Sloan-Kettering at Basking Ridge	Basking Ridge	New Jersey
United States	Dana Farber Cancer Institute (Data Collection Only)	Boston	Massachusetts
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	Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only)	Philadelphia	Pennsylvania
United States	Memorial Sloan Kettering Nassau	Uniondale	New York

Sponsors (2)

Lead Sponsor	Collaborator
Memorial Sloan Kettering Cancer Center	Phenogen Sciences

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	number of patients 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.	3 years

External Links

•   Memorial Sloan Kettering Cancer Center