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

Not Applicable

Not yet recruiting

• Conditions: Testicular Cancer
• Interventions: Genetic: Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members

• Registration Number: NCT06142500
• Lead Sponsor: IRCCS San Raffaele

Brief Summary

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

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.

Study Timeline

• Study First Submitted: 2023-10-09
• Status Verified: 2023-11
• Study First Submitted QC: 2023-11-16
• Last Update Submitted: 2023-11-16
• Study First Posted: 2023-11-21
• Last Update Posted: 2023-11-21
• Study Start: 2023-12-01
• Primary Completion: 2025-09-21
• Study Completion: 2026-09-21

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 4500

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
First-degree family members of patients with testicular cancer	Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members	First-degree family members of patients with testicular cancer
Patients with testicular cancer	Analysis of biological samples of saliva from testicular cancer patients and from their first-degree family members	Patient with testicular cancer

Primary Outcome Measures

Name	Time	Method
Saliva biological sample	Baseline	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

Secondary Outcome Measures

Name	Time	Method
Demographic-clinical variables	Baseline	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;