Genetic alteration associated with chronic lymphocytic leukemia

Cytogenetic and Genome Research

Volumn 118, Issue 2-4, 2007, Pages 310-319

  Cotter, F E ^a   Auer, R L ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MICRORNA;

CHROMOSOME 11Q; CHROMOSOME 13Q; CHROMOSOME 14; CHROMOSOME 22; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHRONIC LYMPHATIC LEUKEMIA; CLINICAL PRACTICE; EPIGENETICS; GENE ACTIVATION; GENE DELETION; GENE INACTIVATION; GENE MUTATION; GENETIC DISORDER; GENETICS; HUMAN; HYPOTHESIS; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; TRISOMY 12; TUMOR SUPPRESSOR GENE;

CHROMOSOME ABERRATIONS; DISEASE PROGRESSION; GENE SILENCING; HAPLOTYPES; HUMANS; LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL; MUTATION;

EID: 36249025755     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000108315     Document Type: Review

References (146)

1. Aalto Y, El-Rifa W, Vilpo L, Ollila J, Nagy B, et al: Distinct gene expression profiling in chronic lymphocytic leukemia with 11q23 deletion. Leukemia 15:721-1728 (2001).
2. Amiel A, Mulchanov I, Elis A, Gaber E, Manor Y, et al: Deletion of 6q27 in chronic lymphocytic leukemia and multiple myeloma detected by fluorescence in situ hybridization. Cancer Genet Cytogenet 112:53-56 (1999).
3. Auer RL, Jones C, Mullenbach RA, Syndercombe-Court D, Milligan DW, et al: Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia. Blood 97:509-515 (2001).
4. Auer RL, Starczynski J, McElwaine S, Bertoni F, Newland AC, et al: Identification of a potential role for POU2AF1 and BTG4 in the deletion of 11q23 in chronic lymphocytic leukemia. Genes Chromosomes Cancer 43:1-10 (2005).
5. Auer RL, Dighiero G, Goldin LR, Syndercombe-Court D, Jones C, et al: Trinucleotide repeat dynamic mutation identifying susceptibility in familial and sporadic chronic lymphocytic leukaemia. Br J Haematol 136:73-79 (2007a).
6. Auer RL, Riaz S, Cotter FE: The 13q and 11q B cell chronic lymphocytic leukaemia associated regions derive from a common ancestral region in the zebrafish. Brit J Haematol 137:443-453 (2007b)
7. Austen B, Powell JE, Alvi A, Edwards I, Hooper L, et al: Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL. Blood 106:3175-3182 (2005).
8. Bachman KE, Park BH, Rhee I, Rajagopalan H, Herman JG, et al: Histone modifications and silencing prior to DNA methylation of a tumor suppressor gene. Cancer Cell 3:89-95 (2003).
9. Baranova A, Hammarsund M, Ivanov D, Skoblov M, Sangfelt O, et al: Distinct organization of the candidate tumor suppressor gene RFP2 in human and mouse: multiple mRNA isoforms in both species- and human-specific antisense transcript RFP2OS. Gene 321:103-112 (2003).
10. Baylin SB, Herman JG, Graff JR, Vertino PM, Issa JP: Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv Cancer Res 72:141-196 (1998).
11. Baylin SB, Esteller M, Rountree MR, Bachman KE, Schuebel K, Herman JG: Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer. Hum Mol Genet 10:687-692 (2001).
12. Benzow KA, Koob MD, Condie A, Catovsky D, Matutes E, et al: Instability of CAG-trinucleotide repeats in chronic lymphocytic leukemia. Leuk Lymphoma 43:1987-1990 (2002).
13. Bevan S, Catovsky D, Marossy A, Matutes E, Popat S, et al: Linkage analysis for ATM in familial B cell chronic lymphocytic leukaemia. Leukemia 13:1497-1500 (1999).
14. Bichi R, Shinton SA, Martin ES, Koval A, Calin GA, et al: Human chronic lymphocytic leukemia modeled in mouse by targeted TCL1 expression. Proc Natl Acad Sci USA 99:6955-6960 (2002).
15. Bigoni R, Cuneo A, Roberti MG, Bardi A, Rigolin GM, et al: Chromosome aberrations in atypical chronic lymphocytic leukemia: a cytogenetic and interphase cytogenetic study. Leukemia 11:1933-1940 (1997).
16. Buhl AM, Jurlander J, Jorgensen FS, Ottesen AM, Cowland JB, et al: Identification of a gene on chromosome 12q22 uniquely overexpressed in chronic lymphocytic leukemia. Blood 107:2904-2911 (2006).
17. Bullrich F, Rasio D, Kitada S, Starostik P, Kipps T, et al: ATM mutations in B-cell chronic lymphocytic leukemia. Cancer Res 59:24-27 (1999).
18. Bullrich F, Fujii H, Calin G, Mabuchi H, Negrini M, et al: Characterization of the 13q14 tumor suppressor locus in CLL: identification of ALT1, an alternative splice variant of the LEU2 gene. Cancer Res 61:6640-6648 (2001).
19. Byrd JC, Gribben JG, Peterson BL, Grever MR, Lozanski G, et al: Select high-risk genetic features predict earlier progression following chemoimmunotherapy with fludarabine and rituximab in chronic lymphocytic leukemia: justification for risk-adapted therapy. J Clin Oncol 24:437-443 (2006).
20. Byrd JC, Lin TS, Dalton JT, Wu D, Phelps MA, et al: Flavopiridol administered using a pharmacologically derived schedule is associated with marked clinical efficacy in refractory, genetically high-risk chronic lymphocytic leukemia. Blood 109:399-404 (2007).
21. Caballero D, Garcia-Marco JA, Martino R, Mateos V, Ribera JM, et al: Allogeneic transplant with reduced intensity conditioning regimens may overcome the poor prognosis of B-cell chronic lymphocytic leukemia with unmutated immunoglobulin variable heavy-chain gene and chromosomal abnormalities (11q- and 17p-). Clin Cancer Res 11:7757-7763 (2005).
22. Calin GA, Dumitru CD, Shimizu M, Bichi R, Zupo S, et al: Frequent deletions and down-regulation of micro-RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia. Proc Natl Acad Sci USA 99:15524-15529 (2002).
23. Calin GA, Liu CG, Sevignani C, Ferracin M, Felli N, et al: MicroRNA profiling reveals distinct signatures in B cell chronic lymphocytic leukemias. Proc Natl Acad Sci USA 101:11755-11760 (2004).
24. Calin GA, Ferracin M, Cimmino A, Di Leva G, Shimizu M, et al: A microRNA signature associated with prognosis and progression in chronic lymphocytic leukemia. N Engl J Med 353:1793-1801 (2005a).
25. Calin GA, Trapasso F, Shimizu M, Dumitru CD, Yendamuri S, et al: Familial cancer associated with a polymorphism in ARLTS1. N Engl J Med 352:1667-1676 (2005b).
26. Catovsky D: The search for genetic clues in chronic lymphocytic leukemia. Hematol Cell Ther 39:S5-S11 (1997).
27. Chen CZ: MicroRNAs as oncogenes and tumor suppressors. N Engl J Med 353:1768-1771 (2005).
28. Chen CZ, Li L, Lodish HF, Bartel DP: MicroRNAs modulate hematopoietic lineage differentiation. Science 303:83-86 (2004).
29. Cimmino A, Calin GA, Fabbri M, Iorio MV, Ferracin M, et al: miR-15 and miR-16 induce apoptosis by targeting BCL2. Proc Natl Acad Sci USA 102:13944-13949 (2005).
30. Comings DE: A general theory of carcinogenesis. Proc Natl Acad Sci USA 70:3324-3328 (1973).
31. Corcoran MM, Rasool O, Liu Y, Iyengar A, Grander D, et al: Detailed molecular delineation of 13q14.3 loss in B-cell chronic lymphocytic leukemia. Blood 91:1382-1390 (1998).
32. Cordone I, Masi S, Mauro FR, Soddu S, Morsilli O, et al: p53 expression in B-cell chronic lymphocytic leukemia: a marker of disease progression and poor prognosis. Blood 91:4342-4349 (1998).
33. Costinean S, Zanesi N, Pekarsky Y, Tili E, Volinia S, et al: Pre-B cell proliferation and lymphoblastic leukemia/high-grade lymphoma in E(mu)-miR155 transgenic mice. Proc Natl Acad Sci USA 103:7024-7029 (2006).
34. Crespo M, Bosch F, Villamor N, Bellosillo B, Colomer D, et al: ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia. N Engl J Med 348:1764-1775 (2003).
35. Criel A, Verhoef G, Vlietinck R, Mecucci C, Billiet J, et al: Further characterization of morphologically defined typical and atypical CLL: a clinical, immunophenotypic, cytogenetic and prognostic study on 390 cases. Br J Haematol 97:383-391 (1997).
36. Cuneo A, Rigolin GM, Bigoni R, De Angeli C, Veronese A, et al: Chronic lymphocytic leukemia with 6q- shows distinct hematological features and intermediate prognosis. Leukemia 18:476-483 (2004).
37. Damle RN, Wasil T, Fais F, Ghiotto F, Valetto A, et al: Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia. Blood 94:1840-1847 (1999).
38. Daugherty SE, Pfeiffer RM, Mellemkjaer L, Hemminki K, Goldin LR: No evidence for anticipation in lymphoproliferative tumors in population-based samples. Cancer Epidemiol Biomarkers Prev 14:1245-1250 (2005).
39. De Lord C, Powles R, Mehta J, Wilson K, Treleaven J, et al: Familial acute myeloid leukaemia: four male members of a single family over three consecutive generations exhibiting anticipation. Br J Haematol 100:557-560 (1998).
40. Deshpande HA, Hu XP, Marino P, Jan NA, Wiernik PH: Anticipation in familial plasma cell dyscrasias. Br J Haematol 103:696-703 (1998).
41. Dickinson JD, Smith LM, Sanger WG, Zhou G, Townley P, et al: Unique gene expression and clinical characteristics are associated with the 11q23 deletion in chronic lymphocytic leukaemia. Br J Haematol 128:460-471 (2005).
42. Dickinson JD, Gilmore J, Iqbal J, Sanger W, Lynch JC, et al: 11q22.3 deletion in B-chronic lymphocytic leukemia is specifically associated with bulky lymphadenopathy and ZAP-70 expression but not reduced expression of adhesion/cell surface receptor molecules. Leuk Lymphoma 47:231-244 (2006a).
43. Dickinson JD, Joshi, Iqbal J, Sanger W, Bierman PJ, Joshi SS: Genomic abnormalities in chronic lymphocytic leukemia influence gene expression by a gene dosage effect. Int J Mol Med 17:769-778 (2006b).
44. Dierlamm J, Wlodarska I, Michaux L, Vermeesch JR, Meeus P, et al: FISH identifies different types of duplications with 12q13-q15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12. Genes Chromosomes Cancer 20:155-166 (1997).
45. Dohner H, Fischer K, Bentz M, Hansen K, Benner A, et al: p53 gene deletion predicts for poor survival and non-response to therapy with purine analogs in chronic B-cell leukemias. Blood 85:1580-1589 (1995).
46. Dohner H, Stilgenbauer S, James MR, Benner A, Weilguni T, et al: 11q deletions identify a new subset of B-cell chronic lymphocytic leukemia characterized by extensive nodal involvement and inferior prognosis. Blood 89:2516-2522 (1997).
47. Dohner H, Stilgenbauer S, Benner A, Leupolt E, Krober A, et al: Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 343:1910-1916 (2000).
48. Dreger P, Corradini P, Kimby E, Michallet M, Milligan D, et al: Indications for allogeneic stem cell transplantation in chronic lymphocytic leukemia: the EBMT transplant consensus. Leukemia 21:12-17 (2007).
49. Eis PS, Tam W, Sun L, Chadburn A, Li Z, et al: Accumulation of miR-155 and BIC RNA in human B cell lymphomas. Proc Natl Acad Sci USA 102:3627-3632 (2005).
50. el Rouby S, Thomas A, Costin D, Rosenberg CR, Potmesil M, et al: p53 gene mutation in B-cell chronic lymphocytic leukemia is associated with drug resistance and is independent of MDR1/MDR3 gene expression. Blood 82:3452-3459 (1993).
51. Fegan C, Robinson H, Thompson P, Whittaker JA, White D: Karyotypic evolution in CLL: identification of a new sub-group of patients with deletions of 11q and advanced or progressive disease. Leukemia 9:2003-2008 (1995).
52. Fero ML, Randel E, Gurley KE, Roberts JM, Kemp CJ: The murine gene p27Kip1 is haplo-insufficient for tumour suppression. Nature 396:177-180 (1998).
53. Fraser FC: Trinucleotide repeats not the only cause of anticipation. Lancet 350:459-460 (1997).
54. Geisler CH, Philip P, Christensen BE, Hou-Jensen K, Pedersen NT, et al: In B-cell chronic lymphocytic leukaemia chromosome 17 abnormalities and not trisomy 12 are the single most important cytogenetic abnormalities for the prognosis: a cytogenetic and immunophenotypic study of 480 unselected newly diagnosed patients. Leuk Res 21:1011-1023 (1997).
55. Geoffroy-Perez B, Janin N, Ossian K, Lauge A, Croquette MF, et al: Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer 93:288-293 (2001).
56. Goldin LR, Sgambati M, Marti GE, Fontaine L, Ishibe N, Caporaso N: Anticipation in familial chronic lymphocytic leukemia. Am J Hum Genet 65:265-269 (1999).
57. Goldin LR, Ishibe N, Sgambati M, Marti GE, Fontaine L, et al: A genome scan of 18 families with chronic lymphocytic leukaemia. Br J Haematol 121:866-873 (2003).
58. Guarini A, Gaidano G, Mauro FR, Capello D, Mancini F, et al: Chronic lymphocytic leukemia patients with highly stable and indolent disease show distinctive phenotypic and genotypic features. Blood 102:1035-1041 (2003).
59. Haidar MA, El-Hajj H, Bueso-Ramos CE, Manshouri T, Glassman A, et al: Expression profile of MDM-2 proteins in chronic lymphocytic leukemia and their clinical relevance. Am J Hematol 54:189-195 (1997).
60. Hamblin TJ, Davis Z, Gardiner A, Oscier DG, Stevenson FK: Unmutated Ig V(H) genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood 94:1848-1854 (1999).
61. Hamblin TJ, Orchard JA, Gardiner A, Oscier DG, Davis Z, Stevenson FK: Immunoglobulin V genes and CD38 expression in CLL. Blood 95:2455-2457 (2000).
62. Haslinger C, Schweifer N, Stilgenbauer S, Dohner H, Lichter P, et al: Microarray gene expression profiling of B-cell chronic lymphocytic leukemia subgroups defined by genomic aberrations and VH mutation status. J Clin Oncol 22:3937-3949 (2004).
63. He L, Thomson JM, Hemann MT, Hernando-Monge E, Mu D, et al: A microRNA polycistron as a potential human oncogene. Nature 435:828-833 (2005).
64. Herling M, Patel KA. Khalili J, Schlette E, Kobayashi R, et al: TCL1 shows a regulated expression pattern in chronic lymphocytic leukemia that correlates with molecular subtypes and proliferative state. Leukemia 20:280-285 (2006).
65. Herman JG, Merlo A, Mao L, Lapidus RG, Issa, JP, et al: Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res 55:4525-4530 (1995).
66. Horwitz M: The genetics of familial leukemia. Leukemia 11:1347-1359 (1997).
67. Horwitz M, Goode EL, Jarvik GP: Anticipation in familial leukemia. Am J Hum Genet 59:990-998 (1996).
68. Jones GG, Reaper PM, Pettitt AR, Sherrington PD: The ATR-p53 pathway is suppressed in noncycling normal and malignant lymphocytes. Oncogene 23:1911-1921 (2004).
69. Joshi AD, Dickinson JD, Hegde GV, Sanger WG, Armitage JO, et al: Bulky lymphadenopathy with poor clinical outcome is associated with ATM downregulation in B-cell chronic lymphocytic leukemia patients irrespective of 11q23 deletion. Cancer Genet Cytogenet 172:120-126 (2007).
70. Kalachikov S, Migliazza A, Cayanis E, Fracchiolla NS, Bonaldo MF, et al: Cloning and gene mapping of the chromosome 13q14 region deleted in chronic lymphocytic leukemia. Genomics 42:369-377 (1997).
71. Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, et al: Translocation t(X;11) (q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. Genes Chromosomes Cancer 42:128-143 (2005).
72. Kienle DL, Korz C, Hosch B, Benner A, Mertens D, et al: Evidence for distinct pathomechanisms in genetic subgroups of chronic lymphocytic leukemia revealed by quantitative expression analysis of cell cycle, activation, and apoptosis-associated genes. J Clin Oncol 23:3780-3792 (2005).
73. Kim SZ, Chow KU, Kukoc-Zivojnov N, Boehrer S, et al: Expression of ZAP-70 protein correlates with disease stage in chronic lymphocytic leukemia and is associated with, but not generally restricted to, non-mutated Ig VH status. Leuk Lymphoma 45:2037-2045 (2004).
74. Kitamura E, Su G, Sossey-Alaoui K, Malaj E, Lewis J, et al: A transcription map of the minimally deleted region from 13q14 in B-cell chronic lymphocytic leukemia as defined by large scale sequencing of the 650 kb critical region. Oncogene 19:5772-5780 (2000).
75. Knauf WU, Knuutila S, Zeigmeister B, Thiel E: Trisomy 12 in B-cell chronic lymphocytic leukemia: correlation with advanced disease, atypical morphology, high levels of sCD25, and with refractoriness to treatment. Leuk Lymphoma 19:289-294 (1995).
76. Knudson AG Jr: Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 68:820-823 (1971).
77. Krober A, Seiler T, Benner A, Bullinger L, Bruckle E, et al: V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia. Blood 100:1410-1416 (2002).
78. Liu Y, Corcoran M, Rasool O, Ivanova G, Ibbotson R, et al: Cloning of two candidate tumor suppressor genes within a 10 kb region on chromosome 13q14, frequently deleted in chronic lymphocytic leukemia. Oncogene 15:2463-2473 (1997).
79. Lozanski G, Heerema NA, Flinn IW, Smith L, Harbison J, et al: Alemtuzumab is an effective therapy for chronic lymphocytic leukemia with p53 mutations and deletions. Blood 103:3278-3281 (2004).
80. Mabuchi H, Fujii H, Calin G, Alder H, Negrini M, et al: Cloning and characterization of CLLD6, CLLD7 , and CLLD8 , novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. Cancer Res 61:2870-2877 (2001).
81. Matrai Z, Lin K, Dennis M, Sherrington P, Zuzel M, et al: CD38 expression and Ig VH gene mutation in B-cell chronic lymphocytic leukemia. Blood 97:1902-1903 (2001).
82. Matutes E, Oscier D, Garcia-Marco J, Ellis J, Copplestone A, et al: Trisomy 12 defines a group of CLL with atypical morphology: correlation between cytogenetic, clinical and laboratory features in 544 patients. Br J Haematol 92:382-388 (1996).
83. Merlo A, Herman JG, Mao L, Lee DJ, Gabrielson E, et al: 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nat Med 1:686-692 (1995).
84. Mertens D, Wolf S, Schroeter P, Schaffner C, Dohner H, et al: Down-regulation of candidate tumor suppressor genes within chromosome band 13q14.3 is independent of the DNA methylation pattern in B-cell chronic lymphocytic leukemia. Blood 99:4116-4121 (2002).
85. Mertens D, Wolf S, Tschuch C, Mund C, Kienle D, et al: Allelic silencing at the tumor-suppressor locus 13q14.3 suggests an epigenetic tumor-suppressor mechanism. Proc Natl Acad Sci USA 103:7741-7746 (2006).
86. Merup M, Juliusson G, Wu X, Jansson M, Stellan B, et al: Amplification of multiple regions of chromosome 12, including 12q13-q15, in chronic lymphocytic leukaemia. Eur J Haematol 58:174-180 (1997).
87. Merup M, Moreno TC, Heyman M, Ronnberg K, Grander D, et al: 6q deletions in acute lymphoblastic leukemia and non-Hodgkin's lymphomas. Blood 91:3397-3400 (1998).
88. Migliazza A, Bosch F, Komatsu H, Cayanis E, Martinotti S, et al: Nucleotide sequence, transcription map, and mutation analysis of the 13q14 chromosomal region deleted in B-cell chronic lymphocytic leukemia. Blood 97:2098-2104 (2001).
89. Miska EA: How microRNAs control cell division, differentiation and death. Curr Opin Genet Dev 15:563-568 (2005).
90. Morrell D, Chase CL, Swift M: Cancers in 44 families with ataxia-telangiectasia. Cancer Genet Cytogenet 50:119-123 (1990).
91. Neilson JR, Auer R, White D, Bienz N, Waters JJ, et al: Deletions at 11q identify a subset of patients with typical CLL who show consistent disease progression and reduced survival. Leukemia 11:1929-1932 (1997).
92. Ng D, Marti GE, Fontaine L, Toro JR, Caporaso N, Goldin LR: High-density mapping and follow-up studies on chromosomal regions 1, 3, 6, 12, 13 and 17 in 28 families with chronic lymphocytic leukaemia. Br J Haematol 133:59-61 (2006).
93. Ng D, Toure O, Wei MH, Arthur DC, Abbasi F, et al: Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia. Blood 109:916-925 (2007).
94. Nuckel H, Frey UH, Durig J, Duhrsen U, Siffert W: 1513A/C polymorphism in the P2X7 receptor gene in chronic lymphocytic leukemia: absence of correlation with clinical outcome. Eur J Haematol 72:259-263 (2004).
95. O'Donnell KA, Wentzel EA, Zeller KI, Dang CV, Mendell JT: c-Myc-regulated microRNAs modulate E2F1 expression. Nature 435:839-843 (2005).
96. Olsen JH, Hahnemann JM, Borresen-Dale AL, Brondum-Nielsen K, Hammarstrom L, et al: Cancer in patients with ataxia-telangiectasia and in their relatives in the Nordic countries. J Natl Cancer Inst 93:121-127 (2001).
97. Oscier DG, Gardiner AC, Mould SJ, Glide S, Davis ZA, et al: Multivariate analysis of prognostic factors in CLL: clinical stage, IGVH gene mutational status, and loss or mutation of the p53 gene are independent prognostic factors. Blood 100:1177-1184 (2002).
98. Payne SR, Kemp CJ: Tumor suppressor genetics. Carcinogenesis 26:2031-2045 (2005).
99. Pekarsky Y, Santanam U, Cimmino A, Palamarchuk A, Efanov A, et al: Tcl1 expression in chronic lymphocytic leukemia is regulated by miR-29 and miR-181. Cancer Res 66:11590-11593 (2006).
100. Petronis A, Kennedy JL, Paterson AD: Genetic anticipation: fact or artifact, genetics or epigenetics? Lancet 350:1403-1404 (1997).
101. Pettitt AR, Sherrington PD, Stewart G, Cawley JC, Taylor AM, Stankovic T: p53 dysfunction in B-cell chronic lymphocytic leukemia: inactivation of ATM as an alternative to TP53 mutation. Blood 98:814-822 (2001).
102. Pritsch O, Troussard X, Magnac C, Mauro FR, Davi F, et al: VH gene usage by family members affected with chronic lymphocytic leukaemia. Br J Haematol 107:616-624 (1999).
103. Rassenti LZ, Huynh L, Toy TL, Chen L, Keating MJ, et al: ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia. N Engl J Med 351:893-901 (2004).
104. Romanov VV, James CH, Sherrington PD, Pettitt AR: Basic fibroblast growth factor suppresses p53 activation in the neoplastic cells of a proportion of patients with chronic lymphocytic leukaemia. Oncogene 24:6855-6860 (2005).
105. Rudd MF, Sellick GS, Webb EL, Catovsky D, Houlston RS: Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia. Blood 108:638-644 (2006).
106. Sakai A, Marti GE, Caporaso N, Pittaluga S, Touchman JW, et al: Analysis of expressed immunoglobulin heavy chain genes in familial B-CLL. Blood 95:1413-1419 (2000).
107. Schaffner C, Stilgenbauer S, Rappold GA, Dohner H, Lichter P: Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. Blood 94:748-753 (1999).
108. Secchiero P, Barbarotto E, Tiribelli M, Zerbinati C, di Iasio MG, et al: Functional integrity of the p53-mediated apoptotic pathway induced by the nongenotoxic agent nutlin-3 in B-cell chronic lymphocytic leukemia (B-CLL). Blood 107:4122-4129 (2006)
109. Sellick GS, Rudd M, Eve P, Allinson R, Matutes E, et al: The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia. Cancer Epidemiol Biomarkers Prev 13:1065-1067 (2004).
110. Sellick GS, Webb EL, Allinson R, Matutes E, Dyer MJ, et al: A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci. Am J Hum Genet 77:420-429 (2005).
111. Sellick GS, Catovsky D, Houlston RS: Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia. Leuk Res 30:1573-1576 (2006).
112. Stanbridge EJ, Der CJ, Doersen CJ, Nishimi RY, Peehl DM, et al: Human cell hybrids: analysis of transformation and tumorigenicity. Science 215:252-259 (1982).
113. Stankovic T, Kidd AM, Sutcliffe A, McGuire GM, Robinson P, et al: ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet 62:334-345 (1998).
114. Stankovic T, Weber P, Stewart G, Bedenham T, Murray J, et al: Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Lancet 353:26-29 (1999).
115. Stankovic T, Stewart GS, Fegan C, Biggs P, Last J, et al: Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage. Blood 99:300-309 (2002).
116. Starczynski J, Pepper C, Pratt G, Hooper L, Thomas A, et al: The P2X7 receptor gene polymorphism 1513 A → C has no effect on clinical prognostic markers, in vitro sensitivity to fludarabine, Bcl-2 family protein expression or survival in B-cell chronic lymphocytic leukaemia. Br J Haematol 123:66-71 (2003).
117. Starostik P, Manshouri T, O'Brien S, Freireich E, Kantarjian H, et al: Deficiency of the ATM protein expression defines an aggressive subgroup of B-cell chronic lymphocytic leukemia. Cancer Res 58:4552-4557 (1998).
118. Stilgenbauer S, Liebisch P, James MR, Schroder M, Schlegelberger B, et al: Molecular cytogenetic delineation of a novel critical genomic region in chromosome bands 11q22.3-q23.1 in lymphoproliferative disorders. Proc Natl Acad Sci USA 93:11837-11841 (1996).
119. Stilgenbauer S, Nickolenko J, Wilhelm J, Wolf S, Weitz S, et al: Expressed sequences as candidates for a novel tumor suppressor gene at band 13q14 in B-cell chronic lymphocytic leukemia and mantle cell lymphoma. Oncogene 16:1891-1897 (1998).
120. Stilgenbauer S, Bullinger L, Benner A, Wildenberger K, Bentz M, et al: Incidence and clinical significance of 6q deletions in B cell chronic lymphocytic leukemia. Leukemia 13:1331-1334 (1999).
121. Su'ut L, O'Connor SJ, Richards SJ, Jones RA, Roberts BE, et al: Trisomy 12 is seen within a specific subtype of B-cell chronic lymphoproliferative disease affecting the peripheral blood/bone marrow and co-segregates with elevated expression of CD11a. Br J Haematol 101:165-170 (1998).
122. Summersgill B, Thornton P, Atkinson S, Matutes E, Shipley J, et al: Chromosomal imbalances in familial chronic lymphocytic leukaemia: a comparative genomic hybridisation analysis. Leukemia 16:1229-1232 (2002).
123. Sutherland GR, Richards RI: Simple tandem DNA repeats and human genetic disease. Proc Natl Acad Sci USA 92:3636-3641 (1995).
124. Takeuchi S, Koike M, Seriu T, Bartram CR, Schrappe M, et al: Frequent loss of heterozygosity on the long arm of chromosome 6: identification of two distinct regions of deletion in childhood acute lymphoblastic leukemia. Cancer Res 58:2618-2623 (1998).
125. Taylor AM: Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer. Br J Cancer 66:5-9 (1992).
126. Taylor AM, Metcalfe JA, Thick J, Mak YF: Leukemia and lymphoma in ataxia telangiectasia. Blood 87:423-438 (1996).
127. Thornton PD, Gruszka-Westwood AM, Hamoudi RA, Atkinson S, Kaczmarek P, et al: Characterisation of TP53 abnormalities in chronic lymphocytic leukaemia. Hematol J 5:47-54 (2004).
128. Thunberg U, Johnson A, Roos G, Thorn I, Tobin G, et al: CD38 expression is a poor predictor for VH gene mutational status and prognosis in chronic lymphocytic leukemia. Blood 97:1892-1894 (2001).
129. Thunberg U, Tobin G, Johnson A, Soderberg O, Padyukov L, et al: Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia. Lancet 360:1935-1939 (2002).
130. Valganon M, Giraldo P, Agirre X, Larrayoz MJ, Rubio-Martinez A, et al: p53 Aberrations do not predict individual response to fludarabine in patients with B-cell chronic lymphocytic leukaemia in advanced stages Rai III/IV. Br J Haematol 129:53-59 (2005).
131. Virgilio L, Narducci MG, Isobe M, Billips LG, Cooper MD, et al: Identification of the TCL1 gene involved in T-cell malignancies. Proc Natl Acad Sci USA 91:12530-12534 (1994).
132. Vorechovsky I, Rasio D, Luo L, Monaco C, Hammarstrom L, et al: The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation. Cancer Res 56:2726-2732 (1996).
133. Vorechovsky I, Luo L, Ortmann E, Steinmann D, Dork T: Missense mutations at ATM gene and cancer risk. Lancet 353:1276 (1999).
134. Watanabe T, Hotta T, Ichikawa A, Kinoshita T, Nagai H, et al: The MDM2 oncogene overexpression in chronic lymphocytic leukemia and low-grade lymphoma of B-cell origin. Blood 84:3158-3165 (1994).
135. Wiernik PH, Wang SQ, Hu XP, Marino P, Paietta E: Age of onset evidence for anticipation in familial non-Hodgkin's lymphoma. Br J Haematol 108:72-79 (2000).
136. Wiernik PH, Ashwin M, Hu XP, Paietta E, Brown K: Anticipation in familial chronic lymphocytic leukaemia. Br J Haematol 113:407-414 (2001).
137. Wiestner A, Rosenwald A, Barry TS, Wright G, Davis RE, et al: ZAP-70 expression identifies a chronic lymphocytic leukemia subtype with unmutated immunoglobulin genes, inferior clinical outcome, and distinct gene expression profile. Blood 101:4944-4951 (2003).
138. Wiley JS, Dao-Ung LP, Gu BJ, Sluyter R, Shemon AN, et al: A loss-of-function polymorphic mutation in the cytolytic P2X7 receptor gene and chronic lymphocytic leukaemia: a molecular study. Lancet 359:1114-1119 (2002).
139. Winkler D, Schneider C, Krober A, Pasqualucci L, Lichter P, et al: Protein expression analysis of chromosome 12 candidate genes in chronic lymphocytic leukemia (CLL). Leukemia 19:1211-1215 (2005).
140. Wolf S, Mertens D, Schaffner C, Korz C, Dohner H, et al: B-cell neoplasia associated gene with multiple splicing (BCMS): the candidate B-CLL gene on 13q14 comprises more than 560 kb covering all critical regions. Hum Mol Genet 10:1275-1285 (2001).
141. Yuille MR, Houlston RS, Catovsky D: Anticipation in familial chronic lymphocytic leukaemia. Leukemia 12:1696-1698 (1998).
142. Yuille MR, Matutes E, Marossy A, Hilditch B, Catovsky D, Houlston RS: Familial chronic lymphocytic leukaemia: a survey and review of published studies. Br J Haematol 109:794-799 (2000).
143. Yuille MR, Condie A, Hudson CD, Bradshaw PS, Stone EM, et al: ATM mutations are rare in familial chronic lymphocytic leukemia. Blood 100:603-609 (2002).
144. Zhang LY, Ibbotson RE, Orchard JA, Gardiner AC, Seear RV, et al: P2X7 polymorphism and chronic lymphocytic leukaemia: lack of correlation with incidence, survival and abnormalities of chromosome 12. Leukemia 17:2097-2100 (2003).
145. Zhang Y, Matthiesen P, Harder S, Siebert R, Castoldi G, et al: A 3-cM commonly deleted region in 6q21 in leukemias and lymphomas delineated by fluorescence in situ hybridization. Genes Chromosomes Cancer 27:52-58 (2000).
146. Zhu Y, Monni O, El-Rifai W, Siitonen SM, Vilpo L, et al: Discontinuous deletions at 11q23 in B cell chronic lymphocytic leukemia. Leukemia 13:708-712 (1999).