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

Mastectomy; Lymphedema Clinical Trial

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT04943250
• Other study ID #: UPCC 09121
• Status: Enrolling by invitation
• Start date: June 2021
• Est. completion date: August 2023

Study information

• Verified date: June 2021
• Source: Abramson Cancer Center of the University of Pennsylvania
• Contact: n/a
• 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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 195
• Est. completion date: August 2023
• Est. primary completion date: June 2023
• Gender: Female
• Age group: 25 Years and older

Eligibility

Inclusion Criteria:

• Female, aged 25 or older
• 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

• Lymphedema
• Mastectomy; Lymphedema

Intervention

Genetic:
• Genetic Risk Modifier testing
To determine the impact of genetic risk modifier testing on newly diagnosed BRCA1/2 mutation carriers' decisional conflict with respect to their intention to undergo preventive mastectomy or to pursue surveillance. To examine the effects of different genetic risk modifier test results (i.e., magnitude of the polygenic risk score) on BRCA1/2 mutation carriers' psychological and behavioral outcomes. To describe the extent to which BRCA1/2 mutation carriers choose against learning novel genetic risk modifier test results.

Locations

Country	Name	City	State
United States	Abramson Cancer Center University of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (3)

Lead Sponsor	Collaborator
Abramson Cancer Center of the University of Pennsylvania	Dana-Farber Cancer Institute, Memorial Sloan Kettering Cancer Center

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) with regard to decision to undergo preventive mastectomy or to pursue surveillance.	3 years