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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04920656

Enrollment

1000

Registered

2021-06-10

Start date

2021-04-01

Completion date

2025-02-01

Last updated

2025-03-19

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Breast Cancer

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Measure	Time frame	Description
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	—
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	—

Countries

Jordan

Outcome results