WEST-KOaST Study: WES Analysis of Testicular Cancer Patientsand Their First-degree Family Members

Study Overview
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Brief Summary
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The project aims to identify the possible risk factors regarding the onset of the disease and to evaluate genes and gene modifications responsible for the onset od testicular cancer.

Detailed Description
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Testicular tumor represents a relatively rare disease that hit young-adults men. It represents 1% of all male cancers and 5% of all urological male tumors. Its incidence grow year by year. In the field of the oncological research, the lack of knowledge about genes related to this disease represent a very relevant clinical question. For this reason this project aims to collect biological samples of saliva from testicular cancer patients and from their first-degree family members; demographic-clinical variables will be also collected in order to draft a comprehensive panel of genes and gene modifications related to the testicular cancer, combining this survey with a very detailed description of this cohort of patient in terms of clinical features and quality of life.

Official Title
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WEST-KOaST Study: WES (Whole Exome Sequencing) Analysis of Testicular Cancer Patientsand Their First-degree Family Members

Conditions
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Testicular Cancer

Intervention / Treatment
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* Genetic: Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male testicular cancer patients with an age > 18 and < 90 First degree family members of Male testicular cancer patients with an age > 18 and < 90 Ability to read and sign the informed consent Diagnosis of testicular cancer for the experimental group Exclusion Criteria: Female for the experimental group Second degree family members of Male testicular cancer patients People with an age < 18 and > 90 Diagnosis different from testicular cancer for the experimental group Incapacity to read and sign the informed consent

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Patients with testicular cancer<br>Patient with testicular cancer | Genetic: Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members<br>* The project aims to collect biological samples of saliva from testicular cancer patients and from their first-degree family members; demographic-clinical variables will be also collected in order to draft a comprehensive panel of genes and gene modifications related to the testicular cancer, combining this survey with a very detailed descprition of this cohort of patient in terms of clinical features and quality of life<br>|
| Active Comparator: First-degree family members of patients with testicular cancer<br>First-degree family members of patients with testicular cancer | Genetic: Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members<br>* The project aims to collect biological samples of saliva from testicular cancer patients and from their first-degree family members; demographic-clinical variables will be also collected in order to draft a comprehensive panel of genes and gene modifications related to the testicular cancer, combining this survey with a very detailed descprition of this cohort of patient in terms of clinical features and quality of life<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Saliva biological sample | Saliva biological samples will be collected from both patients with testicular cancer and their first-degree family members trough a buccal swab, that will be analysed with a whole exome sequencing (WES) in order to explore panel of genes | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Demographic-clinical variables | Demographic and clinical variables will be collected from the interview with the physician: 1)Age of the subject; 2. Age at diagnosis; 3. Ethnicity; 4.BMI; 5. Lifestyle (smoking, diet, alcohol, physical activity…); 6. Histotype of the neoplasm; 7; Nodule Size; Presence of embryonal carcinoma > 50%; 8. Percentage of necrosis present; 9. Basic pharmacological therapy; 10. Chemo/radiotherapy; | Baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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testicular cancer, cancer, familiarity, genetic, male infertility