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

@article{Watanabe2009MutationalIO,
  title={Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.},
  author={Takuya Watanabe and Sumihito Nobusawa and Shengqing Lu and Jian Huang and Michel Mittelbronn and Hiroko Ohgaki},
  journal={Journal of neuropathology and experimental neurology},
  year={2009},
  volume={68 2},
  pages={
          210-5
        }
}
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 followed by direct DNA sequencing revealed 12 NBS1 mutations (8 missense and 4 intronic… CONTINUE READING

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