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

Hellenic Cooperative Oncology Group

Status: Active, not recruiting

Conditions: Metastatic Breast Cancer

Treatments: Diagnostic Test: NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue

Study type: Observational

Funder types: Other

Identifiers

NCT05758948

TRANS_DNM_17

Details and patient eligibility

About

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.

Full 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.

Enrollment: 101 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

101 participants in 1 patient group

Patients diagnosed with de novo metastatic breast cancer

Description:

Blood and tissue sample from patients diagnosed with DN-MBC will be analyzed using next generation sequencing (NGS)

Treatment:

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