Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer

Study Overview
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Brief Summary
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To determine somatic and germline pathogenic variants in patients with denovo metastatic breast cancer in order to map the molecular/genetic characteristics of DN- MBC aiming in comprehending the biology and highlighting potential novel treatment options for the disease.

Detailed Description
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The value of this study is based on the fact that DN-MBC is rare, seems to be different from early and relapsed breast cancer and has not been studied as distinct disease. To achieve the objective of this study blood and tissue sample from patients diagnosed with DN-MBC will be further analyzed using next generation sequencing (NGS), in order to map the molecular/genetic characteristics of DN-MBC and to detect germline and somatic pathogenic variants. All the results will be associated with the clinicopathological characteristics of the patients.

Official Title
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Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer

Conditions
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Metastatic Breast Cancer

Intervention / Treatment
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* Diagnostic Test: NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Signed informed consent for the provision of the biological material for research purposes Diagnosis of de novo MBC (histologically confirmed) Age >18 years Blood samples Tumor tissue block from at least on disease site, primary (preferably) or metastatic Exclusion Criteria: Inadequate MBC tissue

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients diagnosed with de novo metastatic breast cancer<br>Blood and tissue sample from patients diagnosed with DN-MBC will be analyzed using next generation sequencing (NGS) | Diagnostic Test: NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue<br>* In patients with denovo metastatic breast cancer blood and tissue sample will be collected and then further analysed using NGS in order to detect somatic and germline pathogenic variants<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of participants with somatic pathogenic variants in denovo metastatic breast cancer |  | up to 12 months | 
| Number of participants with germline pathogenic variants in denovo metastatic breast cancer |  | up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Definition of the somatic pathogenic variants measured with Next Generation Sequencing |  | up to 12 months | 
| Collection of clinicopathological characteristics of the included patients from patient's medical file |  | up to 12 months | 
| Definition of the germline pathogenic variants measured with Next Generation Sequencing |  | up to 12 months |