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A review on genetic alterations in CNS metastases related to breast cancer treatment. Is there a role for liquid biopsies in CSF?

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Abstract

Acquired mutations or altered gene expression patterns in brain metastases (BM) and/or leptomeningeal metastases (LM) of breast cancer may play a role in therapy-resistance and offer new molecular targets and treatment options. Despite expanding knowledge of genetic alterations in breast cancer and their metastases, clinical applications for patients with central nervous system (CNS) metastases are currently limited. An emerging tool are DNA-techniques that may detect genetic alterations of the CNS metastases in the cerebrospinal fluid (CSF). In this review we discuss genetic studies in breast cancer and CNS metastases and the role of liquid biopsies in CSF.

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Authors and Affiliations

  1. Department of Neuro-Oncology, Netherlands Cancer Institute, Antoni Van Leeuwenhoek, Amsterdam, The Netherlands

    Peter H. Wessels & Dieta Brandsma

  2. Department of Neurology, St. Antonius Hospital, Utrecht, Nieuwegein, The Netherlands

    Peter H. Wessels

  3. Department of Pathology, Netherlands Cancer Institute-Antoni Van Leeuwenhoek, Amsterdam, The Netherlands

    Mirjam C. Boelens & Kim Monkhorst

  4. Department of Medical Oncology, Netherlands Cancer Institute-Antoni Van Leeuwenhoek, Amsterdam, The Netherlands

    Gabe S. Sonke

  5. Department of Laboratory Medicine, Netherlands Cancer Institute-Antoni Van Leeuwenhoek, Amsterdam, The Netherlands

    Daan van den Broek

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  1. Peter H. Wessels
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Contributions

PW and DB wrote the main manuscript text and prepared the figs. 1 and 2. All authors reviewed the manuscript. Figure 2 was illustrated by Ron Slagter, medical illustrator.

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Correspondence to Peter H. Wessels.

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Conflict of interest

PHW and MCB report no conflicts of interest KM received consultant fees from Pfizer, BMS, Roche, MSD, Abbvie, AstraZeneca, Diaceutics, Lilly, Bayer, Boehringer Ingelheim, Merck and a research grant from Astra Zeneca. Non-financial support from Roche, Takeda, Pfizer, PGDx, Delfi and speakers fees from MSD, Roche, Astra Zeneca, Benecke GS received research support paid to the intstitution from Agendia, AstraZeneca, Merck, Novartis, Roche and Seagen DvdB received honoraria for lectures, presentations, manuscript writing or educational events from Roche Diagnostics DB has an advisory role for Lilly Pharmaceuticals and received institutional research grants from Bristol-Myers Squibb

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Wessels, P.H., Boelens, M.C., Monkhorst, K. et al. A review on genetic alterations in CNS metastases related to breast cancer treatment. Is there a role for liquid biopsies in CSF?. J Neurooncol 162, 1–13 (2023). https://doi.org/10.1007/s11060-023-04261-2

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