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Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer - A Feasibility Study
Bernadette Anna Sophia Jaeger1, Natalia Krawczyk1, Anna Sophia Japp2
1Department of Obstetrics and Gynecology, University Hospital and Medical Faculty of the Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Introduction:
The purpose of this feasibility study was to select targeted therapies according to "ESMO Scale for Clinical Actionability of molecular Targets (ESCAT)". Data interpretation was further supported by a browser-based Treatment Decision Support platform (MH Guide, Molecular Health, Heidelberg, Germany).
Patients:
We applied next generation sequencing based whole exome sequencing of tumor tissue and peripheral blood of patients with metastatic breast cancer (n = 44) to detect somatic as well as germline mutations.
Results:
In 32 metastatic breast cancer patients, data interpretation was feasible. We identified 25 genomic alterations with ESCAT Level of Evidence I or II in 18/32 metastatic breast cancer patients, which were available for evaluation: three copy number gains in HER2 , two g BRCA1 , two g BRCA2 , six PIK3CA, one ESR1 , three PTEN , one AKT1 and two HER2 mutations. In addition, five samples displayed Microsatellite instability high-H.
Conclusions:
Resulting treatment options were discussed in a tumor board and could be recommended in a small but relevant proportion of patients with metastatic breast cancer (7/18). Thus, this study is a valuable preliminary work for the establishment of a molecular tumor board within the German initiative "Center for Personalized Medicine" which aims to shorten time for analyses and optimize selection of targeted therapies.
Insights
This study shows that using the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) and a decision support platform can identify actionable genomic alterations in metastatic breast cancer patients. This aids in selecting targeted therapies and establishing molecular tumor boards.
Area of Science:
- Oncology
- Genomics
- Personalized Medicine
Background:
- Metastatic breast cancer treatment requires precise molecular profiling for targeted therapy selection.
- The ESMO Scale for Clinical Actionability of molecular Targets (ESCAT) provides a framework for evaluating the clinical relevance of genomic alterations.
- Decision support platforms can aid in interpreting complex genomic data.
Purpose of the Study:
- To assess the feasibility of selecting targeted therapies for metastatic breast cancer using the ESCAT criteria.
- To evaluate the utility of a browser-based decision support platform (MH Guide) for data interpretation.
- To lay the groundwork for establishing molecular tumor boards in Germany.
Main Methods:
- Whole exome sequencing of tumor tissue and peripheral blood from 44 metastatic breast cancer patients.
- Application of the ESCAT framework for classifying genomic alterations.
- Utilized the MH Guide platform for data interpretation and treatment decision support.
Main Results:
- Feasible data interpretation was achieved in 32 patients.
- Identified 25 clinically actionable genomic alterations (ESCAT Level I or II) in 18/32 patients.
- Key alterations included HER2 copy number gains, BRCA1/2 germline mutations, PIK3CA, ESR1, PTEN, and AKT1 mutations, and Microsatellite Instability-High.
Conclusions:
- Targeted treatment options were recommended for 7/18 patients, demonstrating clinical utility.
- This feasibility study supports the establishment of molecular tumor boards for optimized targeted therapy selection.
- The findings contribute to the German "Center for Personalized Medicine" initiative by streamlining genomic analysis and treatment planning.
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