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

Active, not recruiting

• Conditions: Metastatic Breast Cancer
• Interventions: Diagnostic Test: NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue

• Registration Number: NCT05758948
• Lead Sponsor: Hellenic Cooperative Oncology Group

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 Timeline

• Study Start: 1998-07-05
• Primary Completion: 2010-10-05
• Study First Submitted: 2023-02-15
• Study First Submitted QC: 2023-02-24
• Status Verified: 2023-03
• Study First Posted: 2023-03-08
• Last Update Submitted: 2023-04-06
• Last Update Posted: 2023-04-07
• Study Completion: 2023-06

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 101

Inclusion Criteria

1. Signed informed consent for the provision of the biological material for research purposes
2. Diagnosis of de novo MBC (histologically confirmed)
3. Age >18 years
4. Blood samples
5. Tumor tissue block from at least on disease site, primary (preferably) or metastatic

Exclusion Criteria

Inadequate MBC tissue

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients diagnosed with de novo metastatic breast cancer	NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue	Blood and tissue sample from patients diagnosed with DN-MBC will be analyzed using next generation sequencing (NGS)

Primary Outcome Measures

Name	Time	Method
Number of participants with germline pathogenic variants in denovo metastatic breast cancer	up to 12 months
Number of participants with somatic pathogenic variants in denovo metastatic breast cancer	up to 12 months

Secondary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (1)

Evangelia Moirogiorgou; 🇬🇷 Athens, Greece