Detection of ESR1 Mutations in Tissue and Liquid Biopsy with Novel Next-Generation Sequencing and Digital Droplet PCR Assays: Insights from Multi-Center Real Life Data of Almost 6000 Patients
Our findings not only corroborate prior research concerning the rarity of these mutations in unselected patients but also emphasize the importance of robust and broad molecular assays rather than single gene assays in their detection and characterization in the diagnostic setting. Advantages of different approaches are discussed to address the current clinical need.
Authors
- Samiksha A. Borkar (ORCID: https://orcid.org/0000-0002-6290-1088)
- Claudia Vollbrecht (ORCID: https://orcid.org/0000-0002-0861-001X)
- Markus Möbs (ORCID: https://orcid.org/0000-0002-1502-3032)
- Fenja Markus
- Frank Griesinger (ORCID: https://orcid.org/0000-0002-6822-5498)
- Eva‐Maria Willing (ORCID: https://orcid.org/0000-0002-5202-9214)
- Elena Ioana Braicu (ORCID: https://orcid.org/0000-0001-5357-6001)
- Katja Horling (ORCID: https://orcid.org/0000-0003-4939-7312)
- David Horst (ORCID: https://orcid.org/0000-0003-4755-5743)
- Katharina Tiemann
- Stefanie Schmidt (ORCID: https://orcid.org/0000-0003-2053-0909)
- Christine Vössing
- Lukas C. Heukamp (ORCID: https://orcid.org/0000-0002-3388-3482)
- Agnes Oetting
Institutions
- Carl von Ossietzky Universität Oldenburg (DE)
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- Humboldt-Universität zu Berlin (DE)
- Institut für Hämatopathologie Hamburg (DE)
- Klinikum Oldenburg (DE)
- Pius Hospital Oldenburg (DE)
- Freie Universität Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Cancers
- Published
- 2025-04-09
- DOI
- https://doi.org/10.3390/cancers17081266
- Citations
- 3
- Primary Topic
- Advanced Breast Cancer Therapies
- Type
- article
- Field-Weighted Citation Impact
- 4.56
Funders
- Bundesministerium für Bildung und Forschung