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

NCT04920656 | Completed

• 1 other identifier: 20 KHCC 202
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Breast Cancer

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (4)

• Rate of cascade testing of family members of the participants with positive pathogenic mutation

  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

Study Arms (1)

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.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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.

You may not qualify if:

• \- Major psychiatric disorder (defined as: patients followed by a psychiatrist and on antipsychotic medications

Sponsors & Collaborators

• King Hussein Cancer Center: lead

Study Sites (1)

King Hussein Cancer Center

Amman, Amman Governorate, 11941, Jordan

Location

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral blood samples

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Hikmat Abdel-Razeq

  King Hussein Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Chairman of department of medicine, Chief Medical officer, Deputy Director General

Study Record Dates

• First Submitted: May 16, 2021
• First Posted: June 10, 2021
• Study Start: April 1, 2021
• Primary Completion: February 1, 2025
• Study Completion: February 1, 2025
• Last Updated: March 19, 2025

Record last verified: 2025-03

Locations

JO (1)