Christina Walter 1, Andreas Hartkopf 1, Andre Koch 1, Marion Klaumünzer 2, Martin Schulze 2, Eva-Maria Grischke 1, Florin-Andrei Taran 1, Sara Brucker 1, Florian Battke 2, Saskia Biskup 2
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.
Keywords: actionable mutations; breast cancer; genetics; next-generation sequencing.
- Department of Women’s Health, University of Tuebingen, Tuebingen, Germany.
- Praxis fuer Humangenetik and CeGaT GmbH, Tuebingen, Germany.