Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

Carcinogenesis

Volumn 28, Issue 1, 2007, Pages 107-111

  Krüger, Lars ^a   Demuth, Ilja ^a   Neitzel, Heidemarie ^a   Varon, Raymonda ^a   Sperling, Karl ^a   Chrzanowska, Krystyna H ^b   Seemanova, Eva ^c   Digweed, Martin ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; NIBRIN; P70 NIBRIN;

ADOLESCENT; ADULT; ARTICLE; CANCER INCIDENCE; CANCER MORTALITY; CANCER RISK; CANCER SURVIVAL; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHILD; DISEASE SEVERITY; FEMALE; HEMATOLOGIC MALIGNANCY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; LYMPHOBLASTOID CELL LINE; LYMPHOMA; MALE; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RNA TRANSLATION;

ADOLESCENT; ADULT; B-LYMPHOCYTES; CELL CYCLE PROTEINS; CHILD; FEMALE; HUMANS; IMMUNOPRECIPITATION; INCIDENCE; LYMPHOMA, B-CELL; MALE; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; TUMOR CELLS, CULTURED;

EID: 33845653255     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgl126     Document Type: Article

References (33)

1. Seemanova,E., Passarge,E., Beneskova,D., Houstek,J., Kasal,P. and Sevcikova,M. (1985) Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder. Am. J. Med. Genet., 20, 639-648.
2. The International Nijmegen Breakage Syndrome Study Group. (2000) Nijmegen breakage syndrome. Arch. Dis. Child, 82, 400-406.
3. Zhu,J., Petersen,S., Tessarollo,L. and Nussenzweig,A. (2001) Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice. Curr. Biol., 11, 105-109.
4. Dumon-Jones,V., Frappart,P.O., Tong,W.M., Sajithlal,G., Hulla,W., Schmid,G., Herceg,Z., Digweed,M. and Wang,Z.Q. (2003) Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res., 63, 7263-7269.
5. Carney,J.P., Maser,R.S., Olivares,H., Davis,E.M., Le Beau,M., Yates,J.R.,III, Hays,L., Morgan,W.F. and Petrini,J.H. (1998) The hMre11/ hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response. Cell, 93, 477-486.
6. Varon,R., Vissinga,C., Platzer,M. et al. (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell, 93, 467-476.
7. Maser,R.S., Zinkel,R. and Petrini,J.H. (2001) An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet., 27, 417-421.
8. Demuth,I., Frappart,P.O., Hildebrand,G. et al. (2004) An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum. Mol. Genet., 13, 2385-2397.
9. Paull,T.T. and Gellert,M. (1999) Nbs1 potentiates ATP-driven DNA unwinding and endonuclease cleavage by the Mre11/Rad50 complex. Genes Dev., 13, 1276-1288.
10. Tauchi,H., Matsuura,S., Kobayashi,J., Sakamoto,S. and Komatsu,K. (2002) Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene, 21, 8967-8980.
11. Kracker,S., Bergmann,Y., Demuth,I., Frappart,P.O., Hildebrand,G., Christine,R., Wang,Z.Q., Sperling,K., Digweed,M. and Radbruch,A. (2005) Nibrin functions in Ig class-switch recombination. Proc. Natl Acad. Sci. USA, 102, 1584-1589.
12. Girard,P.M., Riballo,E., Begg,A.C., Waugh,A. and Jeggo,P.A. (2002) Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest. Oncogene, 21, 4191-4199.
13. Kinzler,K.W. and Vogelstein,B. (1997) Cancer-susceptibility genes. Gatekeepers and caretakers. Nature, 386, 761-763.
14. Neitzel,H. (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum. Genet., 73, 320-326.
15. Tauchi,H., Kobayashi,J., Morishima,K., Matsuura,S., Nakamura,A., Shiraishi,T., Ito,E., Masnada,D., Delia,D. and Komatsu,K. (2001) The forkhead-associated domain of NBS1 is essential for nuclear foci formation after irradiation but not essential for hRAD50/hMRE11/NBS1 complex DNA repair activity. J. Biol. Chem., 276, 12-15.
16. Lee,J.H., Ghirlando,R., Bhaskara,V., Hoffmeyer,M.R., Gu,J. and Paull,T.T. (2003) Regulation of Mre11/Rad50 by Nbs1: Effects on nucleotide-dependent DNA binding and association with ataxia-telangiectasia-like disorder mutant complexes. J. Biol. Chem., 278, 45171-45181.
17. Kang,J., Bronson,R.T. and Xu,Y. (2002) Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J., 21, 1447-1455.
18. Williams,B.R., Mirzoeva,O.K., Morgan,W.F., Lin,J., Dunnick,W. and Petrini,J.H. (2002) A murine model of Nijmegen breakage syndrome. Curr. Biol., 12, 648-653.
19. Lee,J.H. and Paull,T.T. (2004) Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science, 304, 93-96.
20. Difilippantonio,S., Celeste,A., Fernandez-Capetillo,O. et al. (2005) Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat. Cell Biol., 7, 675-685.
21. Lee,J.H. and Paull,T.T. (2005) ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex. Science, 308, 551-554.
22. Kozak,M. (2003) Alternative ways to think about mRNA sequences and proteins that appear to promote internal initiation of translation. Gene, 318, 1-23.
23. Fouillot,N., Tlouzeau,S., Rossignol,J.M. and Jean-Jean,O. (1993) Translation of the hepatitis B virus P gene by ribosomal scanning as an alternative to internal initiation. J. Virol., 67, 4886-4895.
24. Chrzanowska,K.H., Kleijer,W.J., Krajewska-Walasek,M. et al. (1995) Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome. Am. J. Med. Genet., 57, 462-471.
25. Seidemann,K., Henze,G., Beck,J.D., Sauerbrey,A., Kuhl,J., Mann,G. and Reiter,A. (2000) Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials. Ann. Oncol., 11, 141-145.
26. Seemanova,E. (1990) An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat. Res., 238, 321-324.
27. Steffen,J., Varon,R., Mosor,M. et al. (2004) Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int. J. Cancer, 111, 67-71.
28. Varon,R., Reis,A., Henze,G., von Einsiedel,H.G., Sperling,K. and Seeger,K. (2001) Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res., 61, 3570-3572.
29. Heikkinen,K., Rapakko,K., Karppinen,S.M. et al. (2006) RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis, doi:10.1093/carcin/bgi360.
30. Uhrhammer,N., Bay,J.O., Gosse-Brun,S., Kwiatkowski,F., Rio,P., Daver,A. and Bignon,Y.J. (2000) Allelic imbalance at NBS1 is frequent in both proximal and distal colorectal carcinoma. Oncol. Rep., 7, 427-431.
31. Seemanova,E., Sperling,K., Neitzel,H., Varon,R., Hadac,J., Butova,O., Schrock,E., Seeman,P. and Digweed,M. (2005) Nijmegen Breakage Syndrome (NBS) with neurological abnormalities and without chromosomal instability. J. Med. Genet., 43, 218-224.
32. Shima,H., Suzuki,M. and Shinohara,M. (2005) Isolation and characterization of novel xrs2 mutations in Saccharomyces cerevisiae. Genetics, 170, 71-85.
33. Kang,J., Ferguson,D., Song,H., Bassing,C., Eckersdorff,M., Alt,F.W. and Xu,Y. (2005) Functional interaction of H2AX, NBS1, and p53 in ATM-dependent DNA damage responses and tumor suppression. Mol. Cell. Biol., 25, 661-670.