Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

@article{Ciara2009HeterozygousGM,
  title={Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients},
  author={Elżbieta Ciara and Dorota Piekutowska-Abramczuk and Ewa Popowska and Wiesława Grajkowska and Sławomir Barszcz and Danuta Perek and Bożenna Dembowska-Bagińska and Marta Perek-Polnik and Ewa Kowalewska and Aneta Czajńska and Małgorzata Syczewska and Kamila Czornak and Małgorzata Krajewska-Walasek and Marcin Roszkowski and Krystyna H. Chrzanowska},
  journal={Acta Neuropathologica},
  year={2009},
  volume={119},
  pages={325-334}
}
The NBN (NBS1) gene belongs to a group of double-strand break repair genes. Mutations in any of these genes cause genome instability syndromes and contribute to carcinogenesis. NBN gene mutations cause increased tumor risk in Nijmegen breakage syndrome (NBS) homozygotes as well as in NBN heterozygotes. NBS patients develop different types of malignancies; among solid tumors, medulloblastoma (MB), an embryonal tumor of the cerebellum, has been reported most frequently. The majority of… CONTINUE READING