Universal Genetic Testing Versus Guidelines-Directed Testing for Germline Pathogenic Variants Among Non-Western Patients with Breast Cancer
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- King Hussein Cancer Center
- Enrollment
- 1,000
- Locations
- 1
- Primary Endpoint
- Number of participants with variants of uncertain significance (VUS) as assessed by universal multigene panel testing versus guideline-based targeted testing
Study Overview
Brief Summary
The study aims to examinethe pattern and frequency of pathogenic variants among all newly diagnosed breast cancer patients in a genetically distinct population. Additionally, the uptake rate of "cascade family screening" , frequency of pathogenic variants and barriers against testing will be studied.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Adult patient, age ≥ 18 years at time of cancer diagnosis
- •Pathology proven diagnosis of breast cancer (including DCIS); any stage. (prior history of cancer is allowed)
- •Willingness to participate
- •Signed consent form.
Exclusion Criteria
- •Major psychiatric disorder (defined as: patients followed by a psychiatrist and on antipsychotic medications
Outcomes
Primary Outcomes
Number of participants with variants of uncertain significance (VUS) as assessed by universal multigene panel testing versus guideline-based targeted testing
Time Frame: 2021-2023
The reasons/ Barriers for refusal of genetic cascade testing among newly diagnosed cancer patients
Time Frame: 2021-2023
Prevalence of pathogenic or likely pathogenic germline variants among newly diagnosed breast cancer patients tested by universal multigene panel testing or guideline-based targeted testing
Time Frame: 2021-2023
Secondary Outcomes
- Prevalence of pathogenic or likely pathogenic mutations among family members of the patients with pathogenic mutations using the universal multigene panel(2021-2023)
- Prevalence of variants of uncertain significance (VUS) among tested family members of participants with pathogenic mutations as assessed by universal multigene panel testing(2021-2023)
- Rate of cascade testing of family members of the participants with positive pathogenic mutation(2021-2023)
- The reasons/ Barriers for refusal of genetic cascade testing among family members of the tested patients with pathogenic mutations(2021-2023)
Investigators
Hikmat Abdel-Razeq
Professor, Chairman of department of medicine, Chief Medical officer, Deputy Director General
King Hussein Cancer Center