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Updated: Dec 8, 2025

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a
Christina Walter1, Andreas Hartkopf1, Andre Koch1
1Department of Women's Health, University of Tuebingen, Tuebingen, Germany.
Purpose:
High throughput panel sequencing to tailor therapy in precision oncology promises to improve outcome in patients with metastatic breast cancer. However, data that clearly show any benefit from such an approach is still pending.
Materials And Methods:
We performed a retrospective analysis of advanced breast cancer patients that underwent panel sequencing for suggestion of target related drugs. We aimed to (i) determine the frequency of actionable mutations per patient and to (ii) assess the clinical impact of results on treatment options.
Results:
A total of 52 patients underwent panel sequencing of archived tumor tissue. Every sample showed at least one affected gene, accounting for actionable mutations in 45 of 52 patients (87%). New treatment options that would not have been used as indicated by standard predictive markers (such as hormonal receptor status or HER2-status) were found in 22 of 52 patients (42%). We detected therapeutic relevant pathogenic germline variants in 9,6% (5/52) of the patients.
Conclusions:
Using a high throughput-panel sequencing approach to identify actionable mutations in patients with metastatic breast cancer, we identified potential target-related treatment options in a large proportion of our patients, some of which would not have been considered without this data. Prospective clinical trials with compounds targeting the identified actionable mutations are needed to determine which treatments can indeed improve survival or quality of life by limiting exposure to ineffective drugs in advanced breast cancer.
Insights
High throughput panel sequencing identified actionable mutations in 87% of metastatic breast cancer patients, revealing new treatment options for 42%. Further trials are needed to confirm survival benefits.
Area of Science:
- Oncology
- Genomics
- Translational Medicine
Background:
- Precision oncology aims to improve outcomes in metastatic breast cancer through targeted therapies.
- High throughput panel sequencing offers a promising approach for identifying actionable mutations.
- Clinical evidence demonstrating the benefit of panel sequencing in this patient population is still emerging.
Purpose of the Study:
- To determine the frequency of actionable mutations in advanced breast cancer patients.
- To assess the clinical impact of panel sequencing results on treatment selection.
- To identify potential new therapeutic strategies based on genetic alterations.
Main Methods:
- Retrospective analysis of 52 advanced breast cancer patients.
- Panel sequencing of archived tumor tissue.
- Evaluation of actionable mutations and their correlation with treatment options.
Main Results:
- Actionable mutations were identified in 87% (45/52) of patients.
- New, non-standard treatment options were found in 42% (22/52) of patients.
- Therapeutic relevant germline variants were detected in 9.6% (5/52) of patients.
Conclusions:
- High throughput panel sequencing is effective in identifying actionable mutations in metastatic breast cancer.
- This approach reveals potential targeted treatment options not identified by standard markers.
- Prospective clinical trials are essential to validate the efficacy of these targeted treatments and improve patient survival and quality of life.

