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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
- Major psychiatric disorder (defined as: patients followed by a psychiatrist and on antipsychotic medications
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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
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| Name | Affiliation | Role |
|---|---|---|
| Hikmat Abdel-Razeq | King Hussein Cancer Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| King Hussein Cancer Center | Amman | Amman Governorate | 11941 | Jordan |
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| ID | Term |
|---|---|
| D001943 | Breast Neoplasms |
| ID | Term |
|---|---|
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D001941 | Breast Diseases |
| D012871 | Skin Diseases |
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Peripheral blood samples
| 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 |
| D017437 |
| Skin and Connective Tissue Diseases |