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03-01-2024 | Brain Tumor | Case Report

Germline BRCA2 pathogenic variants in pediatric ganglioglioma: Case report and review of the literature

Authors: Anya Gupta, Mirna Lechpammer, Nicole M. Brossier

Published in: Child's Nervous System | Issue 5/2024

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Abstract

Background

BRCA1 and BRCA2 are tumor suppressor genes associated with increased risk of breast and ovarian cancer in adulthood. Patients with germline pathogenic variants in these genes have also been reported to develop brain tumors, although it is unclear whether these syndromes are associated with significant increased risk of brain tumor formation.

Results

Here, we report a case of a child with germline BRCA2 pathogenic variant presenting with a symptomatic ganglioglioma. To our knowledge, this is the first such patient to be reported. We discuss prior cases of brain tumors in BRCA1/2 patients and evidence for a potential role for BRCA1/2 pathogenic variants in brain tumor formation.

Conclusion

BRCA2 germline variants may increase the risk of developing some types of pediatric brain tumors, but further study is needed to determine its effect on low-grade glioma formation.
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Metadata
Title
Germline BRCA2 pathogenic variants in pediatric ganglioglioma: Case report and review of the literature
Authors
Anya Gupta
Mirna Lechpammer
Nicole M. Brossier
Publication date
03-01-2024
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 5/2024
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-023-06267-7

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Advances in Alzheimer's

Alzheimer's research and care is changing rapidly. Keep up with the latest developments from key international conferences, together with expert insights on how to integrate these advances into practice.

This content is intended for healthcare professionals outside of the UK.

Supported by:
  • Lilly
Developed by: Springer Healthcare IME
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