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Article

Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.

Journal of neuropathology and experimental neurology - 1 Feb 2009

Watanabe Takuya, Nobusawa Sumihito, Lu Shengqing, Huang Jian, Mittelbronn Michel, Ohgaki Hiroko

Abstract excerpt

Nijmegen breakage syndrome caused by NBS1 germline mutations is a rare autosomal recessive disease with clinical features that include microcephaly, increased radiosensitivity, and predisposition to cancer. NBS1 plays a key role in DNA double-strand break repair and the maintenance of genomic stability. We screened 87 glioblastomas for NBS1 mutations (all 16 exons). Single-strand conformation polymorphism...

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Source

Identifiers

PMID: 19151620
DOI: 10.1097/NEN.0b013e31819724c2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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