Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Schuetz, Johanna M ^a   MacArthur, Amy C ^a   Leach, Stephen ^a   Lai, Agnes S ^a   Gallagher, Richard P ^a   Connors, Joseph M ^a   Gascoyne, Randy D ^a   Spinelli, John J ^a,c   Brooks Wilson, Angela R ^a,b  

^a BRITISH COLUMBIA CANCER AGENCY   (Canada)

^b SIMON FRASER UNIVERSITY   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOM SYNDROME HELICASE; MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; MRE11A PROTEIN, HUMAN; NBN PROTEIN, HUMAN; NUCLEAR PROTEIN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; RAD50 PROTEIN, HUMAN; RECQ HELICASE;

ADULT; AGED; ARTICLE; B CELL LYMPHOMA; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONHODGKIN LYMPHOMA; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; T CELL LYMPHOMA; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; STATISTICAL MODEL;

ADULT; AGED; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; LOGISTIC MODELS; LYMPHOMA, NON-HODGKIN; MALE; MIDDLE AGED; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECQ HELICASES;

EID: 71949117653     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-117     Document Type: Article

References (64)

1. Amercian_Cancer_Society_document_"Non-Hodgkin_Lymphoma". 2008, , http://www.cancer.org/docroot/LRN/LRN_0.asp?dt=32
2. Canadian_Cancer_Statistics. 2008, , http://www.cancer.ca
3. Tsujimoto Y, Finger LR, Yunis J, Nowell PC, Croce CM. Cloning of the chromosome breakpoint of neoplastic B cells with the t(14;18) chromosome translocation. Science (New York, NY) 1984, 226(4678):1097-1099.
4. Novik KL, Spinelli JJ, Macarthur AC, Shumansky K, Sipahimalani P, Leach S, Lai A, Connors JM, Gascoyne RD, Gallagher RP. Genetic variation in H2AFX contributes to risk of non-Hodgkin lymphoma. Cancer Epidemiol Biomarkers Prev 2007, 16(6):1098-1106. 10.1158/1055-9965.EPI-06-0639, 17548670.
5. De la Torre C, Pincheira J, Lopez-Saez JF. Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks. Histology and histopathology 2003, 18(1):225-243.
6. Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR, Hays L, Morgan WF, Petrini JH. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 1998, 93(3):477-486. 10.1016/S0092-8674(00)81175-7, 9590181.
7. Hopfner KP, Karcher A, Craig L, Woo TT, Carney JP, Tainer JA. Structural biochemistry and interaction architecture of the DNA double-strand break repair Mre11 nuclease and Rad50-ATPase. Cell 2001, 105(4):473-485. 10.1016/S0092-8674(01)00335-X, 11371344.
8. Thompson LH, Schild D. Recombinational DNA repair and human disease. Mutation research 2002, 509(1-2):49-78.
9. Burgt I, Chrzanowska KH, Smeets D, Weemaes C. Nijmegen breakage syndrome. Journal of medical genetics 1996, 33(2):153-156. 10.1136/jmg.33.2.153, 1051843, 8929954.
10. Seemanova E, Passarge E, Beneskova D, Houstek J, Kasal P, Sevcikova M. Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder. American journal of medical genetics 1985, 20(4):639-648. 10.1002/ajmg.1320200410, 3857858.
11. Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G. Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. American journal of medical genetics 1995, 57(3):462-471. 10.1002/ajmg.1320570321, 7545870.
12. Heikkinen K, Rapakko K, Karppinen SM, Erkko H, Knuutila S, Lundan T, Mannermaa A, Borresen-Dale AL, Borg A, Barkardottir RB. RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability. Carcinogenesis 2006, 27(8):1593-1599. 10.1093/carcin/bgi360, 16474176.
13. Ranganathan V, Heine WF, Ciccone DN, Rudolph KL, Wu X, Chang S, Hai H, Ahearn IM, Livingston DM, Resnick I. Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Curr Biol 2001, 11(12):962-966. 10.1016/S0960-9822(01)00267-6, 11448772.
14. Tauchi H, Matsuura S, Kobayashi J, Sakamoto S, Komatsu K. Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene 2002, 21(58):8967-8980. 10.1038/sj.onc.1206136, 12483513.
15. Grenon M, Gilbert C, Lowndes NF. Checkpoint activation in response to double-strand breaks requires the Mre11/Rad50/Xrs2 complex. Nature cell biology 2001, 3(9):844-847. 10.1038/ncb0901-844, 11533665.
16. Uziel T, Lerenthal Y, Moyal L, Andegeko Y, Mittelman L, Shiloh Y. Requirement of the MRN complex for ATM activation by DNA damage. The EMBO journal 2003, 22(20):5612-5621. 10.1093/emboj/cdg541, 213795, 14532133.
17. Varon R, Reis A, Henze G, von Einsiedel HG, Sperling K, Seeger K. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). Cancer research 2001, 61(9):3570-3572.
18. 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. Human genetics 2004, 115(5):372-376. 10.1007/s00439-004-1155-1, 15338273.
19. Heikkinen K, Karppinen SM, Soini Y, Makinen M, Winqvist R. Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility. Journal of medical genetics 2003, 40(12):e131. 10.1136/jmg.40.12.e131, 1735331, 14684699.
20. Tommiska J, Seal S, Renwick A, Barfoot R, Baskcomb L, Jayatilake H, Bartkova J, Tallila J, Kaare M, Tamminen A. Evaluation of RAD50 in familial breast cancer predisposition. International journal of cancer 2006, 118(11):2911-2916.
21. Giannini G, Ristori E, Cerignoli F, Rinaldi C, Zani M, Viel A, Ottini L, Crescenzi M, Martinotti S, Bignami M. Human MRE11 is inactivated in mismatch repair-deficient cancers. EMBO reports 2002, 3(3):248-254. 10.1093/embo-reports/kvf044, 1084012, 11850399.
22. German J. Bloom's syndrome. Dermatologic clinics 1995, 13(1):7-18.
23. Goss KH, Risinger MA, Kordich JJ, Sanz MM, Straughen JE, Slovek LE, Capobianco AJ, German J, Boivin GP, Groden J. Enhanced tumor formation in mice heterozygous for Blm mutation. Science (New York, NY) 2002, 297(5589):2051-2053.
24. Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, Kirchhoff T, Tomsho LP, Nafa K, Pierce H. BLM heterozygosity and the risk of colorectal cancer. Science (New York, NY) 2002, 297(5589):2013.
25. Cleary SP, Zhang W, Di Nicola N, Aronson M, Aube J, Steinman A, Haddad R, Redston M, Gallinger S, Narod SA. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer research 2003, 63(8):1769-1771.
26. Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nature reviews 2007, 8(10):735-748.
27. Shimura T, Torres MJ, Martin MM, Rao VA, Pommier Y, Katsura M, Miyagawa K, Aladjem MI. Bloom's syndrome helicase and Mus81 are required to induce transient double-strand DNA breaks in response to DNA replication stress. Journal of molecular biology 2008, 375(4):1152-1164. 10.1016/j.jmb.2007.11.006, 2276852, 18054789.
28. Dumon-Jones V, Frappart PO, Tong WM, Sajithlal G, Hulla W, Schmid G, Herceg Z, Digweed M, Wang ZQ. Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis. Cancer research 2003, 63(21):7263-7269.
29. Xiao Y, Weaver DT. Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells. Nucleic acids research 1997, 25(15):2985-2991. 10.1093/nar/25.15.2985, 146850, 9224597.
30. Bender CF, Sikes ML, Sullivan R, Huye LE, Le Beau MM, Roth DB, Mirzoeva OK, Oltz EM, Petrini JH. Cancer predisposition and hematopoietic failure in Rad50(S/S) mice. Genes & development 2002, 16(17):2237-2251. 10.1101/gad.1007902, 186667, 12208847.
31. Morales M, Theunissen JW, Kim CF, Kitagawa R, Kastan MB, Petrini JH. The Rad50S allele promotes ATM-dependent DNA damage responses and suppresses ATM deficiency: implications for the Mre11 complex as a DNA damage sensor. Genes & development 2005, 19(24):3043-3054. 10.1101/gad.1373705, 1315407, 16357220.
32. Sipahimalani P, Spinelli JJ, MacArthur AC, Lai A, Leach SR, Janoo-Gilani RT, Palmquist DL, Connors JM, Gascoyne RD, Gallagher RP. A systematic evaluation of the ataxia telangiectasia mutated gene does not show an association with non-Hodgkin lymphoma. International journal of cancer 2007, 121(9):1967-1975.
33. Spinelli JJ, Ng CH, Weber JP, Connors JM, Gascoyne RD, Lai AS, Brooks-Wilson AR, Le ND, Berry BR, Gallagher RP. Organochlorines and risk of non-Hodgkin lymphoma. International journal of cancer 2007, 121(12):2767-2775.
34. Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, Haussler D. The human genome browser at UCSC. Genome research 2002, 12(6):996-1006. 186604, 12045153.
35. Frazer KA, Pachter L, Poliakov A, Rubin EM, Dubchak I. VISTA: computational tools for comparative genomics. Nucleic acids research 2004, (32 Web Server):W273-279. 10.1093/nar/gkh458, 441596, 15215394.
36. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods in molecular biology (Clifton, NJ) 2000, 132:365-386.
37. Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. Journal of medical genetics 2004, 41(7):508-517. 10.1136/jmg.2004.018275, 1735838, 15235021.
38. Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome research 1998, 8(3):175-185.
39. Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome research 1998, 8(3):186-194.
40. Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nature genetics 2006, 38(3):375-381. 10.1038/ng1746, 16493422.
41. Green P. Phrap. 1996, , http://www.phrap.org/phredphrap/phrap.html
42. Gordon D. Viewing and editing assembled sequences using Consed. Current protocols in bioinformatics/editoral board, Andreas D Baxevanis [et al] 2003, Chapter 11(Unit11):12.
43. Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. American journal of human genetics 2003, 73(5):1162-1169. 10.1086/379378, 1180495, 14574645.
44. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. American journal of human genetics 2001, 68(4):978-989. 10.1086/319501, 1275651, 11254454.
45. Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC. Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Human heredity 2003, 55(1):27-36. 10.1159/000071807, 12890923.
46. Benjamini Y, Y H. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc Ser B 1995, 57:289-300.
47. Bates D, Chambers J, Dalgaard P, Falcon S, Gentleman R, Hornik K, Iacus S, Ihaka R, Leisch F, Lumley T. R. The R Foundation for Statistical Computing, 2.1.1.
48. Ionita-Laza I, Lange C, N ML. Estimating the number of unseen variants in the human genome. Proceedings of the National Academy of Sciences of the United States of America 2009, 106(13):5008-5013. 10.1073/pnas.0807815106, 2664058, 19276111.
49. Encode. 2009, , http://www.hapmap.org/downloads/encode1.html.en
50. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic acids research 2002, 30(17):3894-3900. 10.1093/nar/gkf493, 137415, 12202775.
51. dbSNP. , http://www.ncbi.nlm.nih.gov/projects/SNP/
52. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics (Oxford, England) 2005, 21(2):263-265. 10.1093/bioinformatics/bth457, 15297300.
53. Cerosaletti KM, Morrison VA, Sabath DE, Willerford DM, Concannon P. Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma. Genes, chromosomes & cancer 2002, 35(3):282-286. 10.1002/gcc.10114, 12353271.
54. Chrzanowska KH, Piekutowska-Abramczuk D, Popowska E, Gladkowska-Dura M, Maldyk J, Syczewska M, Krajewska-Walasek M, Goryluk-Kozakiewicz B, Bubala H, Gadomski A. Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies. International journal of cancer 2006, 118(5):1269-1274.
55. Rischewski J, Bismarck P, Kabisch H, Janka-Schaub G, Obser T, Schneppenheim R. The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population. Leukemia 2000, 14(8):1528-1529. 10.1038/sj.leu.2401836, 10942254.
56. Soucek P, Gut I, Trneny M, Skovlund E, Grenaker Alnaes G, Kristensen T, Borresen-Dale AL, Kristensen VN. Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin. Eur J Hum Genet 2003, 11(5):416-419. 10.1038/sj.ejhg.5200972, 12734548.
57. Stanulla M, Stumm M, Dieckvoss BO, Seidemann K, Schemmel V, Muller 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. British journal of haematology 2000, 109(1):117-120. 10.1046/j.1365-2141.2000.01973.x, 10848790.
58. Resnick IB, Kondratenko I, Pashanov E, Maschan AA, Karachunsky A, Togoev O, Timakov A, Polyakov A, Tverskaya S, Evgrafov O. 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, 120A(2):174-179. 10.1002/ajmg.a.20188, 12833396.
59. Seemanova E, Hoch J, Herzogova J, Kawaciuk I, Janda J, Kohoutova M, Seeman P, Varon R, Sperling K. Mutations in tumor suppressor gene NBS1 in adult patients with malignancies. Casopis lekaru ceskych 2006, 145(3):201-203.
60. Seemanova E, Jarolim P, Seeman P, Varon R, Sperling K. Increased risk of malignancies in heterozygotes in families of patients with Nijmegen breakage syndrome. Casopis lekaru ceskych 2006, 145(2):138-143.
61. Steffen J, Varon R, Mosor M, Maneva G, Maurer M, Stumm M, Nowakowska D, Rubach M, Kosakowska E, Ruka W. Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. International journal of cancer 2004, 111(1):67-71.
62. Mosor M, Ziolkowska I, Pernak-Schwarz M, Januszkiewicz-Lewandowska D, Nowak J. Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia. Leukemia 2006, 20(8):1454-1456. 10.1038/sj.leu.2404285, 16810201.
63. Rollinson S, Kesby H, Morgan GJ. Haplotypic variation in MRE11, RAD50 and NBS1 and risk of non-Hodgkin's lymphoma. Leukemia & lymphoma 2006, 47(12):2567-2583. 10.1080/10428190600909743, 17169801.
64. Rothman N, Skibola CF, Wang SS, Morgan G, Lan Q, Smith MT, Spinelli JJ, Willett E, De Sanjose S, Cocco P. Genetic variation in TNF and IL10 and risk of non-Hodgkin lymphoma: a report from the InterLymph Consortium. The lancet oncology 2006, 7(1):27-38. 10.1016/S1470-2045(05)70434-4, 16389181.