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

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 Overview

• Status: Completed
• Conditions: Breast Cancer

• Study Type: Observational
• Enrollment (Actual): 1000

Contacts and Locations

Study Locations

• Jordan
  • Amman, Jordan, 11941
    • King Hussein Cancer Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

All consecutive patients who fulfill the inclusion/exclusion criteria, and are treated and followed up at KHCC will be invited.

A total of 1000 patients are estimated to participate

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Breast cancer patients; All adult patients with a confirmed diagnosis of breast cancer, aged 18 or older at time of cancer diagnosis, will be invited to participate.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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
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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Rate of cascade testing of family members of the participants with positive pathogenic mutation	The family of the positive patients will be offered the genetic testing.	2021-2023
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
The reasons/ Barriers for refusal of genetic cascade testing among family members of the tested patients with pathogenic mutations		2021-2023

Collaborators and Investigators

• Sponsor: King Hussein Cancer Center
• Investigators: Principal Investigator: Hikmat Abdel-Razeq, King Hussein Cancer Center

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2021
• Primary Completion (Actual): February 1, 2025
• Study Completion (Actual): February 1, 2025

Study Registration Dates

• First Submitted: May 16, 2021
• First Submitted That Met QC Criteria: June 3, 2021
• First Posted (Actual): June 10, 2021

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 18, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Breast Neoplasms
• Other Study ID Numbers: 20 KHCC 202

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No