NBS1 heterozygosity and cancer risk

Current Genomics

Volumn 9, Issue 4, 2008, Pages 275-281

  di Masi, Alessandra ^a   Antoccia, Antonio ^a  

^a ROMA TRE UNIVERSITY   (Italy)

Author keywords

657de15 mutation; Breast cancer; Cancer predisposition; Colorectal cancer; Heterozygous; I171V mutation; IVS11+2insT mutation; Lymphoma; NBS1; Prostate cancer; R215W mutation

Indexed keywords

NIBRIN;

AUTOSOMAL RECESSIVE DISORDER; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CHROMOSOMAL INSTABILITY; COLORECTAL CANCER; CORRELATION ANALYSIS; DNA REPAIR; GENE DELETION; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOSITY; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; HYPERSENSITIVITY; IONIZING RADIATION; LYMPHATIC LEUKEMIA; MALIGNANT TRANSFORMATION; NIJMEGEN BREAKAGE SYNDROME; NONHODGKIN LYMPHOMA; NONHUMAN; PATHOGENICITY; PROSTATE CANCER; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; RISK ASSESSMENT; TANDEM REPEAT;

EID: 45749123993     PISSN: 13892029     EISSN: None     Source Type: Journal    
DOI: 10.2174/138920208784533610     Document Type: Review

References (55)

1. Weemaes, C.M., Hustinx, T.W., Scheres, J.M., Van Munster, P.J., Bakkeren, J.A., Taalman, R.D. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr. Scand. 1981, 70: 557-564.
2. The International Nijmegen Breakage Syndrome Study Group, Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch. Dis. Child 2000, 82: 400-406.
3. Digweed, M., Sperling, K. Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair 2004, 3: 1207-1217.
4. Distel, L., Neubauer, S., Varon, R., Holter, W., Grabenbauer, G. Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med. Pediatr. Oncol. 2003, 41: 44-48.
5. Meyer, S., Kingston, H., Taylor, A.M., Byrd, P.J., Last, J.I., Brennan, B.M., Trueman, S., Kelsey, A., Taylor, G.M., Eden, O.B. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Cancer Genet. Cytogenet. 2004, 154: 169-174.
6. Maser, R.S., Zinkel, R., Petrini, J.H. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet. 2001, 27: 417-421.
7. Stumm, M., Neubauer, S., Keindorft, S., Wegner, R.D., Wieacker, P., Sauer, R. High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome. Cytogenet. Cell Genet. 2001, 92: 186-191.
8. Neubauer, S., Arutyunyan, R., Stumm, M., Dork, T., Bendix, R., Bremer, M., Varon, R., Sauer, R., Gebhart, E. Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting. Radiat. Res. 2002, 157: 312-321.
9. Tanzarella, C., Antoccia, A., Spadoni, E., di Masi, A., Pecile, V., Demori, E., Varon, R., Marseglia, G.L., Tiepolo, L., Maraschio, P. Chromosome instability and nibrin protein variants in NBS heterozygotes. Eur. J. Hum. Genet. 2003, 11: 297-303.
10. Varon, R., Reis, A., Henze, G., von-Einsiedel, H.G., Sperling, K., Seeger, K. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer Res. 2001, 61: 3570-3572.
11. http://www.nijmegenbreakagesyndrome.net
12. Seemanova, E. An increased risk of neoplasm in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability. Mutat. Res. 1990, 238: 321-324.
13. Varon, R., Seemanova, E., Chrzanowska, K., Hnateyko, O., Pickutowska-Abramczuk, D., Krajewska-Walasek, M., Sykut-Cegielska, J., Sperling, K., Reis, A. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur. J. Hum. Genet. 2000, 8: 900-902.
14. Seemanova, E., Jarolim, P., Seeman, P., Varon, R., Digweed, M., Swift, M., Sperling K. Cancer risk of heterozygotes with the NBN founder mutation. J. Natl. Cancer Inst. 2007, 99: 1875-1880.
15. Steffen, J., Varon, R., Moser, M., Maneva, G., Maurer, M., Stumm, M., Nowakowska, D., Rubach, M., Kosakowska, E., Ruka, W., Nowecki, Z., Rutkowski, P., Demkow, T., Sadowska, M., Bidzinski, M., Gawrychowski, K., Sperling, K. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int. J. Cancer 2004, 111: 67-71.
16. Kairouz, R., Clarke, R.A., Mart, P.J., Watters, D., Lavin, M.F., Kearsley, J.H., Lee, C.S. ATM protein synthesis patterns in sporadic breast cancer. Mol. Pathol. 1999, 52: 252-256.
17. Brocks, A., Urbanus, J.H., Floore, A.N., Dabler, E.C., Klijn, J.G., Rutgers, E.J., Devilee, P., Russell, N.S., van Leeuwen, F.E., van't Veer L.J. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am. J. Hum. Genet. 2000, 66: 494-500.
18. Zhong, Q., Chen, C.F., Li, S., Chen, Y., Wang, C.C., Xiao, J., Chen, P.L., Sharp, Z.D., Lee, W.H. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 1999, 285: 747-750.
19. Seemanova, E., Sperling, K., Neitzel, H., Varon, R., Hadac, J., Butova, O., Schrock, E., Seeman, P., Digweed, M. Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. J. Med. Genet. 2006, 43: 218-224.
20. Taylor, G.M., O'Brien, H.P., Greaves, M.F., Ravetto, P.F., Eden, O.B. Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukaemia. Cancer Res. 2003, 63: 6563-6564.
21. Hebbring, S.J., Fredriksson, H., White, K.A., Maier, C., Ewing, C., McDonnell, S.K., Jacobsen, S.J., Cerhan, J., Schaid, D.J., Ikonen, T., Autio, V., Tammela, T.L., Herkommer, K., Paiss, T., Vogel, W., Gielzak, M., Sauvageot, J., Schleutker, J., Cooney, K.A., Isaacs, W., Thibodeau, S.M. Role of the Nijmegen Breakage Syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol. Biomarkers Prev. 2006, 15: 935-938.
22. Steffen, J., Maneva, G., Poplawska, L., Varon, R., Mioduszewska, O., Sperling, K. Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation. Int. J. Cancer 2006, 119: 2970-2973.
23. Meyer, P., Stepelmann, H., Frank, B., Varon, R., Burwinkel, B., Schmitt, C., Boettger, M.B., Klaes, R., Sperling, K., Hemminki, K., Kammerer, S. Molecular genetic analysis of NBS1 in German Melanoma patients. Melanoma Res. 2007, 17: 109-116.
24. Bogdanova, N., Feshcenko, S., Schürmann, P., Waltes, R., Wieland, B., Hillemanns, P., Rogov, Y.I., Dammann, O., Bremer, M., Karstens, J.H., Sohn, C., Varon, R., Dörk, T. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int. J. Cancer 2008, 122: 802-806.
25. Shimada, H., Shimizu, K., Mimaki, S., Sakiyama, T., Mori, T., Shimasaki, N., Yokota, J., Nakachi, K., Ohta, T., Ohki, M. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum. Genet. 2004, 115: 372-376.
26. Ziolkowska, I., Mosor, M., Wierzbika, M., Rydzanicz, M., Pemak-Schwarz, M., Nowak, J. Increased risk of larynx cancer in heterozygous carriers of the 1171 V mutation of the NBS1 gene. Cancer Sci. 2007, 98: 1701-1705.
27. Roznowski, K., Januszkiewicz-Lewandowska, D., Mosor, M, Pernak, M., Litwiniuk, M., Nowak, J. 1171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res. Treat. 2007, Sep 26, Epub ahead of print.
28. Nowak, J., Mosor, M., Ziołkowska, I., Wierzbicka, M., Pernak-Schwarz, M., Prziborska, M., Roznowski, K., Pławski, A., Słomski, R., Januszkiewicz, D. Heterozygous carriers of the I171V mutation of the NBS1 gene have a significantly increased risk of solid malignant tumours. Eur. J. Cancer 2008, 44: 627-630.
29. Ebi, H., Matsuo, K., Subito, N., Suzuki, M., Osada, H., Tajima, K., Ueda, R., Takahashi, T. Novel NBS1 heterozygous germline mutation causino MRE11-binding domain loss predispose sto common types of cancer. Cancer Res. 2007, 67: 11158-11165.
30. Sellers, T.A., Bailey-Wilson, J.E., Elston, R.C., Wilson, A.F., Elson, G.Z., Ooi, W.L., Rothschild, H. Evidence for mendelian inheritance in the pathogenesis of lung cancer. J. Natl. Cancer Inst. 1990, 82: 1272-1279.
31. Yang, P., Schwartz, A.G., McAllister, A.E., Swanson, G.M., Aston, C.E. Lung cancer risk in families of nonsmoking probands: heterogeneity by age at diagnosis. Genet. Epidemiol. 1999, 17: 253-273.
32. Ajiki, W., Yamamoto, S. Age-standardized cancer incidence rates in Japan. Jpn. J. Clin. Oncol. 1999, 90: 631-636.
33. Carney, J.P., Maser, R.S., Olivares, H., Davis, E.M., Le Beau, M., Yates, 3rd J.R., Hays, L., Morgan, W.F., Petrini, J.H. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998, 93: 477-486.
34. Petrini, J.H., Stracker, T.H. The cellular response to DNA double-strand breaks: defining the sensors and mediators. Trends Cell Biol. 2003, 13: 458-462.
35. Bork, P., Hofmann, K., Bucher, P., Neuwald, A.F., Altschul, S.F., Koonin, E.V. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J. 1997, 11: 68-76.
36. Callebaut, I., Momon, J.P. From BRCA1 to RAPI: a widespread BRCT module closely associated with DNA repair. FEBS Lett. 1997, 400: 25-30.
37. Becker, E., Meyer, V., Madaoui, H., Guerois, R. Detection of a tandem BRCT in Nbs 1 and Xrs2 with functional implications in the DNA damage response. Bioinformatics 2006, 22: 1289-1292.
38. Lim, D.S., Kim, S.T., Xu, B., Maser, R.S., Lin, J., Petrini, J.H., Kastan, M.B. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 2000, 404: 613-617.
39. Zhao, S., Weng, Y.C., Yuan, S.S., Lin, Y.T,, Hsu, H.C., Lin, S.C., Gerbino, E., Song, M.H., Zdzienicka, M.Z., Gatti, R.A., Shay, J.W., Ziv, Y., Shiloh, Y., Lee, E.Y. Functional link between ataxiatelangiectasia and Nijmegen breakage syndrome gene products. Nature 2000, 405: 473-477.
40. Wu, X., Rangarathan, V., Weisman, D.S., Heine, W.F., Ciccone, D.N., O'Neill, T.B., Crick, K.E., Pierce, K.A., Lane, W.S., Rathbun, G., Livingston, D.M., Weaver, D.T. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 2000, 405: 477-482.
41. Desai-Mehta, A., Cerosaletti, K.M., Concannon, P. Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization. Mol. Cell Biol. 2001, 21: 2184-2191.
42. Falck, J., Coates, J., Jackson, S.P. Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. Nature 2005, 434: 605-611.
43. Williams, B.R., Mirzoeva, O.K., Morgan, W.F., Lin, J., Dunnick, W., Petrini, J.H. A murine model of Nijmegen breakage syndrome. Curr. Biol. 2002, 12: 648-653.
44. di Masi, A., Viganotti, M., Ponticelli, F., Ascenzi, P., Tanzarella, C., Antoccia, A. The R215W mutation in NBS1 impairs -H2AX binding and aff6cts DNA repair: molecular bases for the severe phenotype of 657dc15/ R215W Nijmegen breakage syndrome patients. Biochem. Biophys. Res. Commun. 2008, 369: 835-840.
45. Kobayashi, J., Tauchi, H., Sakamoto, S., Nakamura, A., Morishima, K., Matsuura, S., Kobayashi, T., Tamai, K., Tanimoto, K., Komatsu, K. NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr. Biol. 2002, 12: 1846-1951.
46. Seemanova, E., Radvanska, J., Stary, J., Seeman, P., Gebertova, G., Varon, R., Sperling, K. Nositele mutaci NBS1 genu mezi pacienty detske onkologie. Csl. Pediatr. 2004, 59: 242-245.
47. Dumon-Jones, V., Frappart, P.O., Tong, W.M., Sajithlal, G., Hulla, W., Schmid, G., Herceg, Z., Digweed, M., Wang, Z.Q. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer Res. 2003, 63: 7263-7269.
48. Steffen, J., Nowakowska, D., Niwińska, A., Czapczak, D., Kluska, A., Piatkowska, M., Wiśnicwska, A., Paszko, Z. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int. J. Cancer 2006, 119: 472-475.
49. Carlomagno, F., Chang-Claude, J., Dunning, A.M., Ponder, B.A. Determination of the frequency of the common 657del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer. Genes Chromosomes Cancer 1999, 25: 393-395.
50. Buslov, K.G., Iyevleva, A.G., Chekmariova, E.V., Suspitsin, E.N., Togo, A.V., Kuligina, E.Sh., Sokolenko, A.P., Matsko, D.E., Turkevich, E.A., Lazareva, Y.R., Chagunava, O.L., Bit-Sava, E.M., Semiglazov, V.F., Devilee, P., Cornelisse, C., Hanson, K.P., Imyanitov, E.N. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int. J. Cancer 2005, 114: 585-589.
51. Górski, B., Cybulski, C., Huzarski, T., Byrski, T., Gronwald, J., Jakubowska, A., Stawicka, M., Gozdecka-Grodecka, S., Szwiec, M., Urbański, K., Mituś, J., Marczyk, E., Dziuba, J., Wandzel, P., Surdyka, D., Haus, O., Janiszewska, H., Debniak, T., Tołoczko-Grabarek, A., Medrek, K., Masojć, B., Mierzejewski, M., Kowalska, E., Narod, S.A., Lubiński, J. Breast cancer predisposing alleles in Poland. Breast Cancer Res. Treat. 2005, 92: 19-24.
52. Cybulski, C., Górski, B., Debniak, T., Gliniewicz, B., Mierzejewski, M., Masojć, B., Jakubowska, A., Matyjasik, J., Złowocka, E., Sikorski, A., Narod, S.A., Lubiński, J. NBS1 is a prostate cancer susceptibility gene. Cancer Res. 2004, 64: 1215-1219.
53. Resnick, I.B., Kondratenko, I., Pashanov,E., Maschan, A.A., Karachunsky, A., Togoev, O., Timakov, A., Polyakov, A., Tverskaya, S., Evgrafov, O., Roumiantsev, A.G. 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls. Am. J. Med Genet. A 2003, 120: 174-179.
54. Chrzanowska, K.H., Piekutowska-Abramczuk, D., Popowska, E., Gładkowska-Dura, M., Małdyk, J., Syczewska, M., Krajewska-Walasek, M., Goryluk-Kozakiewicz, B., Bubała, H., Gadomski, A., Gaworczyk, A., Kazanowska, B., Kołtan, A., Kuźmicz, M., Luszawska-Kutrzeba, T., Maciejka-Kapuścińska, L., Stolarska, M., Stefańska, K., Sznurkowska, K., Wakulińska, A., Wieczorek, M., Szczepański, T., Kowalczyk, J. Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. Int. J. Cancer 2006, 118: 1269-74.
55. Stanulla, M., Stümm, M., Dieckvoss, B.O., Seidemann, K., Schemmel, V., Müller Brechlin, A., Schrappe, M., Welte, K., Reiter, A. No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence. Br. J. Haematol. 2000, 109: 117-120.