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

Sponsor

Hellenic Cooperative Oncology Group (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT05758948

Collaborator

Hellenic Society of Medical Oncology (Other)

101

Enrollment

Location

30.9

Anticipated Duration (Months)

3.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Metastatic Breast Cancer	Diagnostic Test: NGS in blood and Formalin-Fixed Paraffin-Embedded (FFPE) tissue

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

Anticipated Enrollment :

101 participants

Observational Model:

Case-Only

Time Perspective:

Other

Official Title:

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

Actual Study Start Date :

Nov 3, 2020

Actual Primary Completion Date :

Jan 31, 2023

Anticipated Study Completion Date :

Jun 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
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 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

Arm

Intervention/Treatment

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

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

Outcome Measures

Primary Outcome Measures

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

association of the somatic pathogenic variants found with Next Generation Sequencing with the clinicopathological characteristics [up to 12 months]
association of the germline pathogenic variants found with Next Generation Sequencing with the clinicopathological characteristics [up to 12 months]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Evangelia Moirogiorgou	Athens		Greece

Sponsors and Collaborators

Hellenic Cooperative Oncology Group
Hellenic Society of Medical Oncology

Investigators

Principal Investigator: EVANGELIA MOIROGIORGOU, YGEIA Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Hellenic Cooperative Oncology Group

ClinicalTrials.gov Identifier:

NCT05758948

Other Study ID Numbers:

TRANS_DNM_17

First Posted:

Mar 8, 2023

Last Update Posted:

Mar 9, 2023

Last Verified:

Feb 1, 2023

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Breast Neoplasms

Formaldehyde

Study Results

No Results Posted as of Mar 9, 2023