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Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
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A novel germ-line mutation in the noncoding region of the p53 gene in a Li-Fraumeni family.
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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
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An update on the central nervous system manifestations of Li-Fraumeni syndrome.
Acta Neuropathol. 2020 Apr;139(4):669-687. doi: 10.1007/s00401-019-02055-3. Epub 2019 Aug 30.
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The molecular landscape of glioma in patients with Neurofibromatosis 1.
Nat Med. 2019 Jan;25(1):176-187. doi: 10.1038/s41591-018-0263-8. Epub 2018 Dec 10.
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The genetic landscape of gliomas arising after therapeutic radiation.
Acta Neuropathol. 2019 Jan;137(1):139-150. doi: 10.1007/s00401-018-1906-z. Epub 2018 Sep 8.
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The genetic landscape of ganglioglioma.
Acta Neuropathol Commun. 2018 Jun 7;6(1):47. doi: 10.1186/s40478-018-0551-z.
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Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas.
Neuro Oncol. 2018 Apr 9;20(5):632-641. doi: 10.1093/neuonc/nox205.
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Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408.
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IDH1 mutation can be present in diffuse astrocytomas and giant cell glioblastomas of young children under 10 years of age.
Acta Neuropathol. 2016 Jul;132(1):153-5. doi: 10.1007/s00401-016-1579-4. Epub 2016 May 9.

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