Article
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
Acta neuropathologica - 1 Mar 2010
Ciara Elżbieta, Piekutowska-Abramczuk Dorota, Popowska Ewa, Grajkowska Wiesława, Barszcz Sławomir, Perek Danuta, Dembowska-Bagińska Bożenna, Perek-Polnik Marta, Kowalewska Ewa, Czajńska Aneta, Syczewska Małgorzata, Czornak Kamila, Krajewska-Walasek Małgorzata, Roszkowski Marcin, Chrzanowska Krystyna H
Abstract excerpt
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 heterozy...
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