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

NCT05758948 | Unknown

• 1 other identifier: TRANS_DNM_17
• Study Type: observational
• Target: 101
• Locations: 1 country
• Sites: 1

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.

Conditions

Metastatic Breast Cancer

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (3)

• 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

Study Arms (1)

Patients diagnosed with de novo metastatic breast cancer

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

Interventions

NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue DIAGNOSTIC_TEST

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

Patients diagnosed with de novo metastatic breast cancer

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients will be selected from community or academic or private hospitals

You may qualify if:

• 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

You may not qualify if:

• Inadequate MBC tissue

Sponsors & Collaborators

• Hellenic Cooperative Oncology Group: lead
• Hellenic Society of Medical Oncology: collaborator

Study Sites (1)

Evangelia Moirogiorgou

Athens, Greece

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue specimens

MeSH Terms

Conditions

Breast Neoplasms

Interventions

Blood Specimen Collection; Histocompatibility Testing

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Immunologic Tests; Immunologic Techniques

Study Officials

• EVANGELIA MOIROGIORGOU

  YGEIA Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 15, 2023
• First Posted: March 8, 2023
• Study Start: July 5, 1998
• Primary Completion: October 5, 2010
• Study Completion: June 1, 2023
• Last Updated: April 7, 2023

Record last verified: 2023-03

Locations

GR (1)