Mutation Analysis of the Nijmegen Breakage Syndrome Gene NBS1 in Nineteen Patients with Acute Myeloid Leukemia with Complex Karyotypes

References

• Lowenberg, B., Downing, J.R. and Burnett, A. (1999) "Acute myeloid leukemia", N. Engl. J. Med. 341, 1051–1062.
   PubMed Web of Science ®Google Scholar
• Willman, C.L. (1999) "Acute Leukemias: a paradigm for the integration of new technologies in diagnosis and classification", Mod. Pathol. 12, 218–228.
   PubMed Web of Science ®Google Scholar
• Greaves, M.F. (1997) "Aetiology of acute leukaemia", Lancet 349, 344–349.
   PubMed Web of Science ®Google Scholar
• Schoch, C., Haferlach, T., Haase, D., Fonatsch, C., Lo�ffler, H., Schlegelberger, B., Staib, P., Sauerland, M.C., Heinecke, A., Bu�chner, T. and Hiddemann, W. (2001) "Patients with de novo acute myeloid leukaemia and complex karyotype aberrations show a poor prognosis despite intensive treatment: a study of 90 patients", Br. J. Haematol. 112, 118–128.
   PubMed Web of Science ®Google Scholar
• Schmutte, C. and Fishel, R. (1999) "Genomic instability: first step to cancerogenesis", Anticancer Res. 19, 4665–4696.
   PubMed Web of Science ®Google Scholar
• Carney, J.P., Maser, R.S., Olivares, H., Davis, E.M., Le Beau, M., Yates, J.R., Hays, L., Morgan, W.F. and Petrini, J.H. (1998) "The hMre 11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response", Cell 93, 477–486.
   PubMed Web of Science ®Google Scholar
• Matsuura, S., Tauchi, H., Nakamura, A., Kondo, N., Sakamoto, S., Endo, S., Smeets, D., Solder, B., Belohradsky, B.H., Der Kaloustian, V.M., Oshimura, M., Isomura, M., Nakamura, Y. and Komatsu, K. (1998) "Positional cloning of the gene for Nijmegen breakage syndrome", Nat. Genet. 19, 179–181.
   PubMed Web of Science ®Google Scholar
• Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K.M., Chrzanowska, K.H., Saar, K., Beckmann, G., Seemanova, E., Cooper, P.R., Nowak, N.J., Stumm, M., Weemaes, C.M., Gatti, R.A., Wilson, R.K., Digweed, M., Rosenthal, A., Sperling, K., Concannon, P. and Reis, A. (1998) "Nibrin, a novel DNA doublestrand break repair protein, is mutated in Nijmegen breakage syndrome", Cell 93, 467–476.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Stankovic, T., Weber, P., Stewart, G., Bedenham, T., Murray, J., Byrd, P.J., Moss, P.A. and Taylor, A.M. (1999) "Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia", Lancet 353, 26–29.
   PubMed Web of Science ®Google Scholar
• Schaffner, C., Stilgenbauer, S., Rappold, G.A., Dohner, H. and Lichter, P. (1999) "Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia", Blood 94, 748–753.
   PubMed Web of Science ®Google Scholar
• Vorechovsky, I., Luo, L., Dyer, M.J., Catovsky, D., Amlot, P.L., Yaxley, J.C., Foroni, L., Hammarstrom, L., Webster, A.D. and Yuille, M.A. (1997) "Clustering of missense mutations in the ataxiatelangiectasia gene in a sporadic T-cell leukaemia", Nat. Genet. 17, 96–99.
   PubMed Web of Science ®Google Scholar
• Swift, M. and Su, Y. (1999) "Link between breast cancer and ATM gene is strong", BMJ 318, 400.
   PubMed Web of Science ®Google Scholar
• Varon, R., Reis, A., Henze, G., Graf, V., Einsiedl, H., 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.
   PubMed Web of Science ®Google Scholar
• Bennett, J., Catovsky, D., Daniel, M.T., Flandrin, G., Galton, D., Gralnick, H. and Sultan, C. (1976) "Proposals for the classification of acute leukemias, a report of the French-American-British Cooperative Group", Br. J. Haematol. 33, 451–458.
   PubMed Web of Science ®Google Scholar
• Harris, N.L., Jaffe, E.S., Diebold, J., Flandrin, D., Muller- Hermelink, H.K., Vardiman, J., Lister, T.A. and Bloomfield, C.D. (1997) "World health organization classification of neoplastic disease of hematopoietic and lymphoid tissues: report of the clinical advisory committee meeting, Airlie House, Virginia", J. Clin. Oncol. 17, 3835–3849.
   Web of Science ®Google Scholar
• ISCN (1995) Guidelines for Cancer Cytogenetics (Basel, Karger).
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Desai-Mehta, A., Cerosaletti, K.M. and Concannon, P. (2001) "Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization", Mol. Cell. Biol. 6, 2184–2191.
   Web of Science ®Google Scholar
• Bremer, S., Hoof, T., Wilke, M., Busche, R., Scholte, B., Riordan, J.R., Maass, G. and Tummler, B. (1992) "Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR) and differentially spliced cystic-fibrosis", Eur. J. Biochem. 206, 137–149.
   PubMedGoogle Scholar
• Chillon, M., Casals, T., Mercier, B., Bassas, L., Lissens, W., Silber, S., Romey, M.C., Ruiz-Romero, J., Verlingue, C., Claustres, M., Nunes, V., Ferec, C. and Estivill, X. (1995) "Mutations in the cystic fibrosis gene in patients with congenital absence of Vas Deferens", N. Engl. J. Med. 332, 1475–1480.
   PubMed Web of Science ®Google Scholar
• Chu, C.S., Trapnell, B.C., Curristin, S., Cutting, G.R. and Crystal, R.G. (1993) "Genetic basis of variables exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA", Nat. Genet. 3, 151–156.
   PubMed Web of Science ®Google Scholar