Universal Genetic Testing Versus Guidelines-Directed Testing for Germline Pathogenic Variants Among Non-Western Patients with Breast Cancer

Completed

• Conditions: Breast Cancer

• Registration Number: NCT04920656
• Lead Sponsor: King Hussein Cancer Center

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-04-01
• Study First Submitted: 2021-05-16
• Study First Submitted QC: 2021-06-03
• Study First Posted: 2021-06-10
• Primary Completion: 2025-02-01
• Study Completion: 2025-02-01
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-18
• Last Update Posted: 2025-03-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of participants with variants of uncertain significance (VUS) as assessed by universal multigene panel testing versus guideline-based targeted testing	2021-2023
The reasons/ Barriers for refusal of genetic cascade testing among newly diagnosed cancer patients	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	2021-2023

Secondary Outcome Measures

Name	Time	Method
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 family of the positive patients will be offered the genetic testing.
The reasons/ Barriers for refusal of genetic cascade testing among family members of the tested patients with pathogenic mutations	2021-2023

Trial Locations

Locations (1)

King Hussein Cancer Center; 🇯🇴 Amman, Jordan