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NBS1; Nijmegen breakage syndrome 1 (nibrin) (8q21)
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  Summary Information

NBS1; Nijmegen breakage syndrome 1 (nibrin)

Location: 8q21

People with Nijmegen breakage syndrome have an increased risk of developing NHL

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  Gene Database Entries for NBS1

GeneCard (Weizmann Institute)
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Human Gene Mutation Database (Cardiff, UK)
Locus Link
Nomenclature (search for NBS1)

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  Other Related Resources

Search Medline for related articles (PubMed)
  • Medline Search: cancer AND gene AND NBS1[TI] (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]
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      Nijmegen Breakage Syndrome

    Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability syndrome characterised by short stature, progressive microcephaly with loss of cognitive skills, ovarian failure in females and immunodeficiency. NBS is also associated with an increased risk of cancer, particularly lymphomas. Mutations of the NBS1 gene are detected in nearly all patients.

  • International NBS Study Group Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child 2000 May;82(5):400-6    Related articles (PubMed)

  • Varon R, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 1998 May 1;93(3):467-76    Related articles (PubMed)

  • Cerosaletti KM, et al. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am J Hum Genet 1998 Jul;63(1):125-34    Related articles (PubMed)

  • van der Burgt I, et al. Nijmegen breakage syndrome. [Review] J Med Genet 1996;33(2):153-6    Related articles (PubMed)

  • Weemaes CM, et al. Nijmegen Breakage syndrome: a progress report. [Review] Int J Radiat Biol 1994;66(6 Suppl):S185-8    Related articles (PubMed)

  • Medline Search: Nijmegen breakage syndrome (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

    Related Resources
    Nijmegen Breakage Syndrome (University of Washington) part of the NCI funded site. Details of NBS, diagnosis, management, molecular biology, genetic counseling, resources, references etc.
    Nijmegen Breakage Syndrome Mutation Database (Virginia Mason Research Center, Washington, USA) includes information about NBS, references, tables of NBS1 gene mutations detected in NBS patients and a table of NBS1 polymorphisms/variants in non-NBS patients.
    Nijmegen Breakage syndrome (Online Mendelian Inheritance in Man, National Center for Biotechnology Information, USA)

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