Detection of Germline and Somatic Pathogenic Variants in Patients With de Novo Metastatic Breast Cancer
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Sponsor
- Enrollment
- 101
- Locations
- 1
- Primary Endpoint
- Number of participants with germline pathogenic variants in denovo metastatic breast cancer
Study Overview
Brief Summary
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
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Other
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
Number of participants with germline pathogenic variants in denovo metastatic breast cancer
Time Frame: up to 12 months
Number of participants with somatic pathogenic variants in denovo metastatic breast cancer
Time Frame: up to 12 months
Secondary Outcomes
- 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)
- Definition of the somatic pathogenic variants measured with Next Generation Sequencing(up to 12 months)