nijmegen breakage syndrome

Summary

Summary: A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

Top Publications

  1. Gładkowska Dura M, Dzierzanowska Fangrat K, Dura W, van Krieken J, Chrzanowska K, van Dongen J, et al. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol. 2008;216:337-44 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by microcephaly, immunodeficiency, radiation hypersensitivity, chromosomal instability and increased incidence of malignancies...
  2. Chrzanowska K, Gregorek H, Dembowska Baginska B, Kalina M, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012;7:13 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies...
  3. Galron R, Gruber R, Lifshitz V, Lu H, Kirshner M, Ziv N, et al. Astrocyte dysfunction associated with cerebellar attrition in a Nijmegen breakage syndrome animal model. J Mol Neurosci. 2011;45:202-11 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a genomic instability disorder caused by hypomorphic mutations in the Nbs1 gene...
  4. Degerman S, Siwicki J, Osterman P, Lafferty Whyte K, Keith W, Roos G. Telomerase upregulation is a postcrisis event during senescence bypass and immortalization of two Nijmegen breakage syndrome T cell cultures. Aging Cell. 2010;9:220-35 pubmed publisher
    ..Two Nijmegen breakage syndrome (NBS) T cell cultures (S3R and S4) showed gradual telomere attrition until a period of growth crisis ..
  5. Pluth J, Yamazaki V, Cooper B, Rydberg B, Kirchgessner C, Cooper P. DNA double-strand break and chromosomal rejoining defects with misrejoining in Nijmegen breakage syndrome cells. DNA Repair (Amst). 2008;7:108-18 pubmed
    ..This work provides both molecular and cytological evidence that NBS1-deficient cells have defects in DSB processing and reveals that these molecular events can be manifest cytologically. ..
  6. Lee W, Chang W, Huang C, Wu K. NBS1, the Nijmegen breakage syndrome gene product, regulates neuronal proliferation and differentiation. J Neurochem. 2007;102:141-52 pubmed
    b>Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by progressive microcephaly, growth retardation, immunodeficiency, and pre-disposition to tumor formation...
  7. Dembowska Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak Kowalczyk D, Gladkowska Dura M, et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer. 2009;52:186-90 pubmed publisher
    Due to small number of patients with Nijmegen Breakage Syndrome (NBS) and Non-Hodgkin lymphoma (NHL) experience in their treatment is limited. Since 1996, 17 patients with a median age of 9.5 years who had NBS, were treated for NHL...
  8. Jovanovic A, Minic P, Scekic Guc M, Djuricic S, Cirkovic S, Weemaes C, et al. Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome. J Pediatr Hematol Oncol. 2009;31:49-52 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, immunodeficiency, and predisposition to malignancy...
  9. Smith J, Wang F, Zhang H, Wu K, Williams K, Daniel R. Evidence that the Nijmegen breakage syndrome protein, an early sensor of double-strand DNA breaks (DSB), is involved in HIV-1 post-integration repair by recruiting the ataxia telangiectasia-mutated kinase in a process similar to, but distinct from, c. Virol J. 2008;5:11 pubmed publisher
    ..In the current study, we found that the Nijmegen breakage syndrome 1 protein (NBS1), an early sensor of DSBs, associates with HIV-1 DNA, recruits the ataxia telangiectasia-..

More Information

Publications62

  1. Wolf E, Shwayder T. Nijmegen breakage syndrome associated with porokeratosis. Pediatr Dermatol. 2009;26:106-8 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder caused by mutations in the NBS-1 gene (8q21)...
  2. Kondratenko I, Paschenko O, Polyakov A, Bologov A. Nijmegen breakage syndrome. Adv Exp Med Biol. 2007;601:61-7 pubmed
    b>Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy...
  3. Salewsky B, Wessendorf P, Hirsch D, Krenzlin H, Digweed M. Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific. Gene. 2013;519:217-21 pubmed publisher
    The autosomal recessive disorder Nijmegen breakage syndrome (NBS) is caused by mutations in the NBN gene which codes for the protein nibrin (NBS1; p95)...
  4. Gallego M, Barreiro C, Danielian S, Rosenweig S. Positive diepoxybutane test in a patient with Nijmegen breakage syndrome. Pediatr Blood Cancer. 2007;49:110; author reply 111 pubmed
  5. Vogel C, Stratman E, Reck S, Lund J. Chronic noninfectious necrotizing granulomas in a child with Nijmegen breakage syndrome. Pediatr Dermatol. 2010;27:285-9 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a chromosomal breakage disorder with characteristic physical features, chromosomal instability, and combined immunodeficiency...
  6. Porcedda P, Turinetto V, Lantelme E, Fontanella E, Chrzanowska K, Ragona R, et al. Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome. DNA Repair (Amst). 2006;5:904-13 pubmed
    ..T cells accumulate double-strand breaks and die, whereas T cells from ataxia telangiectasia (AT) and Nijmegen breakage syndrome (NBS) patients are resistant to this death pathway despite a comparable amount of DNA damage...
  7. di Masi A, Viganotti M, Polticelli F, Ascenzi P, Tanzarella C, Antoccia A. The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients. Biochem Biophys Res Commun. 2008;369:835-40 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by chromosomal instability and hypersensitivity to ionising radiation...
  8. van der Burg M, Pac M, Berkowska M, Goryluk Kozakiewicz B, Wakulinska A, Dembowska Baginska B, et al. Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients. Blood. 2010;115:4770-7 pubmed publisher
    The Nijmegen breakage syndrome (NBS) is a rare inherited condition, characterized by microcephaly, radiation hypersensitivity, chromosomal instability, an increased incidence of (mostly) lymphoid malignancies, and immunodeficiency...
  9. Maurer M, Hoffmann K, Sperling K, Varon R. High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany. J Appl Genet. 2010;51:211-4 pubmed
    b>Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5...
  10. Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer. 2008;122:802-6 pubmed
    Mutations in the NBS1 gene have been identified as disease-causing mutations in patients with Nijmegen Breakage Syndrome (NBS), but their clinical impact on breast cancer susceptibility has remained uncertain...
  11. Turinetto V, Porcedda P, Minieri V, Orlando L, Lantelme E, Accomasso L, et al. A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. DNA Repair (Amst). 2010;9:1200-8 pubmed publisher
    ..when treated with the genotoxic agent Actinomycin D (ActD), those from Ataxia Telangiectasia (AT) and Nijmegen Breakage Syndrome (NBS) patients resist ActD-induced apoptosis [1]...
  12. Matsumoto Y, Miyamoto T, Sakamoto H, Izumi H, Nakazawa Y, Ogi T, et al. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. DNA Repair (Amst). 2011;10:314-21 pubmed publisher
    ..Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and ..
  13. Chrzanowska K, Szarras Czapnik M, Gajdulewicz M, Kalina M, Gajtko Metera M, Walewska Wolf M, et al. High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. J Clin Endocrinol Metab. 2010;95:3133-40 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a severe chromosomal instability disorder characterized by microcephaly, growth retardation, immune deficiency, and predisposition for malignancy...
  14. Seemanova E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, et al. Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. J Med Genet. 2006;43:218-24 pubmed
    b>Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation...
  15. Gregorek H, Chrzanowska K, Dzierzanowska Fangrat K, Wakulinska A, Pietrucha B, Zapaśnik A, et al. Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy. Clin Immunol. 2010;135:440-7 pubmed publisher
    Selected viruses and immune parameters were monitored in 57 patients with Nijmegen breakage syndrome as a proposed tool for early detection of changes preceding development of malignancy...
  16. Lins S, Kim R, Krüger L, Chrzanowska K, Seemanova E, Digweed M. Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome. Gene. 2009;447:12-7 pubmed publisher
    Patients affected by the autosomal recessive Nijmegen Breakage Syndrome (NBS [MIM 251260]) have possibly the highest risk for developing a malignancy of all the chromosomal instability syndromes...
  17. Eich M, Roos W, Dianov G, Digweed M, Kaina B. Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide. Mol Pharmacol. 2010;78:943-51 pubmed publisher
    ..Comparing NBN mutated fibroblasts and lymphoblastoid cells from patients suffering from Nijmegen breakage syndrome, we show that NBN mutants are clearly more sensitive to N-methyl-N'-nitro-N-nitrosoguanidine and ..
  18. Pasic S, Vujic D, Fiorini M, Notarangelo L. T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. Haematologica. 2004;89:ECR27 pubmed
    b>Nijmegen breakage syndrome (NBS) is a rare autosomal-recessive disorder characterized by microcephaly, immunodeficiency and predisposition to cancer, mainly B-cell lymphomas...
  19. Howlett N, Scuric Z, D Andrea A, Schiestl R. Impaired DNA double strand break repair in cells from Nijmegen breakage syndrome patients. DNA Repair (Amst). 2006;5:251-7 pubmed
    b>Nijmegen breakage syndrome, caused by mutations in the NBS1 gene, is an autosomal recessive chromosomal instability disorder characterized by cancer predisposition...
  20. Hebbring S, Fredriksson H, White K, Maier C, Ewing C, McDonnell S, et al. Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol Biomarkers Prev. 2006;15:935-8 pubmed
    The Nijmegen breakage syndrome 1 (NBS1) gene, which participates in DNA double strand break repair, has been postulated to be a susceptibility factor for a number of cancers, including prostate cancer...
  21. Antoccia A, Kobayashi J, Tauchi H, Matsuura S, Komatsu K. Nijmegen breakage syndrome and functions of the responsible protein, NBS1. Genome Dyn. 2006;1:191-205 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is a rare recessive genetic disorder, characterized by bird-like facial appearance, early growth retardation, congenital microcephaly, immunodeficiency and high frequency of malignancies...
  22. Berardinelli F, Sgura A, di Masi A, Leone S, Cirrone G, Romano F, et al. Radiation-induced telomere length variations in normal and in Nijmegen Breakage Syndrome cells. Int J Radiat Biol. 2014;90:45-52 pubmed publisher
    ..We speculate that the MRN is necessary to process a subclass of high-LET radiation-induced complex DNA damage through a recombinational-repair mediated mechanism which in turn is responsible for telomere elongation. ..
  23. Krenzlin H, Demuth I, Salewsky B, Wessendorf P, Weidele K, Burkle A, et al. DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress. PLoS Genet. 2012;8:e1002557 pubmed publisher
    b>Nijmegen Breakage Syndrome (NBS), an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin...
  24. Grałek M, Chrzanowska K, Kanigowska K, Kocyła Karczmarewicz B. [Ocular findings in Nijmegen breakage syndrome]. Klin Oczna. 2011;113:153-5 pubmed
    b>Nijmegen Breakage Syndrome (NBS) is a genomic instability disease caused by inherited mutations in the NBN/NBS1 gene...
  25. Tekin M, Akcayoz D, Ucar C, Gulen H, Akar N. 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population. Hum Biol. 2005;77:393-7 pubmed
    The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS)...
  26. Siwicki J, Rymkiewicz G, Błachnio K, Rygier J, Kuzniar P, Płoski R, et al. Spontaneously immortalized T lymphocytes from Nijmegen Breakage Syndrome patients display phenotypes typical for lymphoma cells. Leuk Res. 2008;32:569-77 pubmed
    We found that the peripheral T lymphocytes from four of eight patients with the lymphoma predisposing Nijmegen Breakage Syndrome (NBS) acquired an unlimited growth potential following in vitro mitogen stimulation and subsequent ..
  27. Seemanova E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, et al. Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst. 2007;99:1875-80 pubmed
    The autosomal recessive chromosomal instability disorder Nijmegen breakage syndrome (NBS) is associated with increased risk of lymphoid malignancies and other cancers. Cells from NBS patients contain many double-stranded DNA breaks...
  28. Huang J, Grotzer M, Watanabe T, Hewer E, Pietsch T, Rutkowski S, et al. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. Clin Cancer Res. 2008;14:4053-8 pubmed publisher
    ..b>Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that ..
  29. Dumic M, Radman I, Krnic N, Nola M, Kusec R, Begovic D, et al. Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome. Clin Lymphoma Myeloma. 2007;7:590-3 pubmed
    A 17-year-old Croatian boy with Nijmegen breakage syndrome (NBS) who developed diffuse large B-cell non-Hodgkin lymphoma is presented...
  30. Albert M, Gennery A, Greil J, Cale C, Kalwak K, Kondratenko I, et al. Successful SCT for Nijmegen breakage syndrome. Bone Marrow Transplant. 2010;45:622-6 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is characterized by chromosomal instability, radiation hypersensitivity, characteristic facial appearance, immunodeficiency and strong predisposition to lymphoid malignancy...
  31. Waltes R, Kalb R, Gatei M, Kijas A, Stumm M, Sobeck A, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009;84:605-16 pubmed publisher
    ..mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively...
  32. Thierfelder N, Demuth I, Burghardt N, Schmelz K, Sperling K, Chrzanowska K, et al. Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients. Eur J Cell Biol. 2008;87:111-21 pubmed
    The human genetic disorder, Nijmegen breakage syndrome (NBS), is characterised by radiosensitivity, immunodeficiency and an increased risk for cancer, particularly lymphoma...
  33. Yoo J, Wolgamot G, Torgerson T, Sidbury R. Cutaneous noncaseating granulomas associated with Nijmegen breakage syndrome. Arch Dermatol. 2008;144:418-9 pubmed publisher
  34. Cheung V, Ewens W. Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype. Genome Res. 2006;16:973-9 pubmed
    ..In this study, we show that carriers of Nijmegen Breakage Syndrome (NBS) have a distinct gene expression phenotype that differs from that of noncarriers and also from that ..
  35. Salewsky B, Hildebrand G, Rothe S, Parplys A, Radszewski J, Kieslich M, et al. Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. Mol Ther. 2016;24:117-24 pubmed publisher
    Over 90% of patients with Nijmegen breakage syndrome (NBS), a hereditary cancer disorder, are homoallelic for a 5?bp deletion in the NBN gene involved in the cellular response to DNA damage...
  36. Tsuchida K, Komatsu K. Impaired removal of DNA interstrand cross-link in Nijmegen breakage syndrome and Fanconi anemia, but not in BRCA-defective group. Cancer Sci. 2008;99:2238-43 pubmed publisher
    ..by a high sensitivity to DNA interstrand cross-links (ICL) and predisposition to malignance include Nijmegen breakage syndrome (NBS) and Fanconi anemia (FA), which is further classified to three groups: (1) FA core-complex group; (..
  37. Hou Y, Toh M, Wang X. NBS1 deficiency promotes genome instability by affecting DNA damage signaling pathway and impairing telomere integrity. Cell Biochem Funct. 2012;30:233-42 pubmed publisher
    Studies revealed that Nijmegen Breakage Syndrome protein 1 (NBS1) plays an important role in maintaining genome stability, but the underlying mechanism is controversial and elusive...
  38. Pollard J, Gatti R. Clinical radiation sensitivity with DNA repair disorders: an overview. Int J Radiat Oncol Biol Phys. 2009;74:1323-31 pubmed publisher
    ..many have been associated with individuals with DNA repair disorders such as ataxia-telangiectasia and Nijmegen Breakage syndrome. A paucity of published data is available detailing such circumstances...
  39. Mizutani S, Takagi M. XCIND as a genetic disease of X-irradiation hypersensitivity and cancer susceptibility. Int J Hematol. 2013;97:37-42 pubmed publisher
    ..Thus, understanding the biological basis of XCIND, including A-T, should help shed light on the pathogenesis of genetic diseases with cancer susceptibility. ..
  40. di Masi A, Antoccia A, Spadoni E, Varon Mateeva R, Maraschio P, Tanzarella C. Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers. Genet Test. 2006;10:24-30 pubmed
    b>Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by a marked predisposition to lymphoreticular malignancies...
  41. Ziółkowska I, Mosor M, Nowak J. Regional distribution of heterozygous 657del5 mutation carriers of the NBS1 gene in Wielkopolska province (Poland). J Appl Genet. 2006;47:269-72 pubmed
    The homozygous 657del5 mutation, called Slavic mutation, of the NBS1 gene, causes the Nijmegen Breakage Syndrome (NBS). This syndrome is connected with a high incidence of malignancies in early childhood...
  42. Pastorczak A, Szczepanski T, Trelinska J, Finalet Ferreiro J, Wlodarska I, Mycko K, et al. Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome. Pediatr Blood Cancer. 2014;61:1469-71 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder characterized by a high incidence of pediatric hematologic malignancies...
  43. Wan R, Wu J, Baloue K, Crowe D. Regulation of the Nijmegen breakage syndrome 1 gene NBS1 by c-myc, p53 and coactivators mediates estrogen protection from DNA damage in breast cancer cells. Int J Oncol. 2013;42:712-20 pubmed publisher
    ..Human diseases such as Nijmegen breakage syndrome, due to mutations in the NBS1 gene, produce defects in resection of double-strand breaks...
  44. Pastorczak A, Stolarska M, Trelinska J, Zawitkowska J, Kowalczyk J, Mlynarski W. Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia. Pediatr Blood Cancer. 2011;57:160-2 pubmed publisher
    ..Therefore, we hypothesized that DNA repair deficiencies in humans, such as Nijmegen breakage syndrome (NBS), may constitute a risk factor for CNS dissemination of acute lymphoblastic leukemia (ALL)...
  45. Mendez G, Cilli D, Berardinelli F, Viganotti M, Ascenzi P, Tanzarella C, et al. Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation. IUBMB Life. 2012;64:853-61 pubmed publisher
    The Nijmegen breakage syndrome (NBS) is a genetic disorder caused by mutations in NBN gene and characterized by chromosomal instability and hypersensitivity to ionizing radiations (IR)...
  46. Warcoin M, Lespinasse J, Despouy G, Dubois d Enghien C, Lauge A, Portnoi M, et al. Fertility defects revealing germline biallelic nonsense NBN mutations. Hum Mutat. 2009;30:424-30 pubmed publisher
    Biallelic mutations in the NBN/NBS1 gene are the cause of Nijmegen breakage syndrome (NBS), a severe pediatric disease characterized by dysmorphy with a bird-like face, microcephaly, growth retardation, immune deficiency, and proneness to ..
  47. di Masi A, Gullotta F, Cappadonna V, Leboffe L, Ascenzi P. Cancer predisposing mutations in BRCT domains. IUBMB Life. 2011;63:503-12 pubmed publisher
  48. Bürger S, Schindler D, Fehn M, Mühl B, Mahrhofer H, Flentje M, et al. Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ Mol Mutagen. 2006;47:260-70 pubmed
    b>Nijmegen breakage syndrome (NBS) patients and carriers are predisposed to malignancy and are often treated with X-irradiation...
  49. Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, et al. Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 2010;31:1059-68 pubmed publisher
    ..and homologous recombination, respectively, lead to clinical and cellular features similar to those of Nijmegen Breakage Syndrome (NBS)...
  50. Brugmans L, Verkaik N, Kunen M, van Drunen E, Williams B, Petrini J, et al. NBS1 cooperates with homologous recombination to counteract chromosome breakage during replication. DNA Repair (Amst). 2009;8:1363-70 pubmed publisher
    b>Nijmegen breakage syndrome (NBS) is characterized by genome instability and cancer predisposition...
  51. Piatosa B, van der Burg M, Siewiera K, Pac M, van Dongen J, Langerak A, et al. The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation. Cytometry A. 2012;81:835-42 pubmed publisher
    Patients with an immunodeficiency in the course of Nijmegen breakage syndrome (NBS) that is caused by mutations in the NBN/NBS1 gene are prone to recurrent infections and malignancies, due to a defective DNA double-strand breaks repair ..
  52. Kilic S. Case 1: A small girl with a bird-like face. Acta Paediatr. 2006;95:1505-8 pubmed
  53. Varon R, Müer A, Wagner K, Zierler H, Sodia S, Rauter L, et al. Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8. Am J Med Genet A. 2007;143A:92-4 pubmed