Universal Genetic Testing Versus Guidelines-Directed Testing for Germline Pathogenic Variants Among Non-Western Patients with Breast Cancer
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Number of participants with variants of uncertain significance (VUS) as assessed by universal multigene panel testing versus guideline-based targeted testing
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Major psychiatric disorder (defined as: patients followed by a psychiatrist and on antipsychotic medications
结局指标
主要结局
Number of participants with variants of uncertain significance (VUS) as assessed by universal multigene panel testing versus guideline-based targeted testing
时间窗: 2021-2023
The reasons/ Barriers for refusal of genetic cascade testing among newly diagnosed cancer patients
时间窗: 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
时间窗: 2021-2023
次要结局
- 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)
研究者
Hikmat Abdel-Razeq
Professor, Chairman of department of medicine, Chief Medical officer, Deputy Director General
King Hussein Cancer Center