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

NCT ID: NCT05758948

Last Updated: 2023-04-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

101 participants

Study Classification

OBSERVATIONAL

Study Start Date

1998-07-05

Study Completion Date

2023-06-30

Brief Summary

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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

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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.

Conditions

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Metastatic Breast Cancer

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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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)

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

Intervention Type 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

Interventions

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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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Hellenic Society of Medical Oncology

OTHER

Sponsor Role collaborator

Hellenic Cooperative Oncology Group

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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EVANGELIA MOIROGIORGOU

Role: PRINCIPAL_INVESTIGATOR

YGEIA Hospital

Locations

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Evangelia Moirogiorgou

Athens, , Greece

Site Status

Countries

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Greece

Other Identifiers

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TRANS_DNM_17

Identifier Type: -

Identifier Source: org_study_id

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