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Background <p>Cancer family syndromes can predispose to malignancies of different sites, including brain and spinal tumours. Germline mutations associated with a high risk of cancer can also be found in patients with metastatic tumours of the brain. We present a few such cases, underscoring the importance of DNA germline testing in all primary and metastatic brain tumours.</p> Case presentations <p>We report four cases illustrating the role of DNA testing in intervention decisions in families of patients with both primary and secondary brain tumours. In this article, we included a case of Li-Fraumeni, Lynch, and von Hippel-Lindau syndromes, as well as a metastatic widespread example of <i>BRCA1</i>-related ovarian cancer.</p> Conclusions <p>In all primary and metastatic brain tumours, genetic testing for germline mutations of high-risk cancers <b>should be considered</b>.</p>

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Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年1月29日

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  • Joanna Robaczyńska,
  • Milena Kiljańczyk,
  • Adam Stachowski,
  • Krzysztof Lubiński,
  • Angelos Dodopoulos,
  • Rayane Benali,
  • Adam Kiljańczyk,
  • Rafał Becht,
  • Cezary Cybulski,
  • Jacek Gronwald,
  • Jan Lubiński

摘要

Background

Cancer family syndromes can predispose to malignancies of different sites, including brain and spinal tumours. Germline mutations associated with a high risk of cancer can also be found in patients with metastatic tumours of the brain. We present a few such cases, underscoring the importance of DNA germline testing in all primary and metastatic brain tumours.

Case presentations

We report four cases illustrating the role of DNA testing in intervention decisions in families of patients with both primary and secondary brain tumours. In this article, we included a case of Li-Fraumeni, Lynch, and von Hippel-Lindau syndromes, as well as a metastatic widespread example of BRCA1-related ovarian cancer.

Conclusions

In all primary and metastatic brain tumours, genetic testing for germline mutations of high-risk cancers should be considered.