Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia

Leukemia

Volumn 18, Issue 3, 2004, Pages 420-425

  Tischkowitz, M D ^a,e   Morgan, N V ^a   Grimwade, D ^a,b   Eddy, C ^a   Ball, S ^c   Vorechovsky, I ^d   Langabeer, S ^b   Stoger R ^a   Hodgson, S V ^a   Mathew, C G ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ST GEORGE S HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Acute myeloid leukemia; DNA repair; Fanconi anemia; Gene deletions

Indexed keywords

BRCA2 PROTEIN; DNA; DNA BINDING PROTEIN; FANCA PROTEIN, HUMAN; FANCONI ANEMIA GROUP A PROTEIN; PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA SCREENING; EPIGENETICS; FANCONI ANEMIA; FEMALE; FLUORESCENCE ANALYSIS; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GERM LINE; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MALE; METHYLATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; RISK ASSESSMENT; ACUTE DISEASE; DNA METHYLATION; DOWN REGULATION; EXON; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; MYELOID LEUKEMIA; PHYSIOLOGY; PROMOTER REGION;

ACUTE DISEASE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DNA METHYLATION; DNA-BINDING PROTEINS; DOWN-REGULATION; EXONS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE SILENCING; HUMANS; LEUKEMIA, MYELOID; MALE; MIDDLE AGED; MUTATION; PROMOTER REGIONS (GENETICS); PROTEINS; SEQUENCE DELETION;

EID: 1542713417     PISSN: 08876924     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.leu.2403280     Document Type: Article

References (42)

1. Auerbach A, Buchwald M, Joenje H. Fanconi anaemia. In: Vogelstein B, Kinzler KW (eds). The Genetic Basis of Human Cancer. New York: McGraw-Hill Inc., 1999, pp 317-332.
2. Alter BP. Fanconi's anemia and malignancies. Am J Hematol 1996; 53: 99-110.
3. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF et al. A 20 year perspective of the International Fanconi Anemia Registry (IFAR). Blood 2003; 101: 1249-1256.
4. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi's anemia. Blood 2003; 101: 822-825.
5. Joenje H, Oostra AB, Wijker M, di Summa FM, van Berkel CG, Rooimans MA et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 1997; 61: 940-944.
6. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 1996; 14: 320-323.
7. The Fanconi Anaemia/Breast Cancer Consortium. Positional cloning of the Fanconi anaemia group A gene. Nat Genet 1996; 14: 324-328.
8. Strathdee CA, Duncan AM, Buchwald M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet 1992; 1: 196-198.
9. Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D et al. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell 2001; 7: 241-248.
10. de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet 2000; 24: 15-16.
11. de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet 2000; 67: 1306-1308.
12. de Winter JP, Waisfisz Q, Rooimans MA, Van Berkel CGM, Bosnoyan-Collins L, Alon N et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet 1998; 20: 281-283.
13. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297: 606-609.
14. Swift M. Fanconi's anaemia in the genetics of neoplasia. Nature 1971; 230: 370-373.
15. Swift M, Caldwell RJ, Chase C. Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J Natl Cancer Inst 1980; 65: 863-867.
16. Lensch MW, Rathbun RK, Olson SB, Jones GR, Bagby Jr GC. Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: A view from the window of Fanconi anemia. Leukemia 1999; 13: 1784-1789.
17. Stoppa-Lyonnet D, Soulier J, Lauge A, Dastot H, Garand R, Sigaux F et al. Inactivation of the ATM gene in T-cell prolymphocytic leukemias. Blood 1998; 91: 3920-3926.
18. Vorechovsky I, Luo L, Dyer MJ, Catovsky D, Amlot PL, Yaxley JC et al. Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia. Nat Genet 1997; 17: 96-99.
19. Stilgenbauer S, Schaffner C, Litterst A, Liebisch P, Gilad S, Bar-Shira A et al. Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. Nat Med 1997; 3: 1155-1159.
20. Stankovic T, Weber P, Stewart G, Bedenham T, Murray J, Byrd PJ et al. Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia. Lancet 1999; 353: 26-29.
21. Watts JA, Morley M, Burdick JT, Fiori JL, Ewens WJ, Spielman RS et al. Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet 2002; 71: 791-800.
22. Condie A, Powles RL, Hudson CD, Sheperd V, Bevan S, Yuille MR et al. Analysis of the Fanconi anaemia complementation group A gene in acute myeloid leukaemia. Leukemia Lymphoma 2002; 43: 1849-1853.
23. Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ et al. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet 1999; 7: 52-59.
24. Barber LM, McGrath HE, Meyer S, Will AM, Birch JM, Eden OB et al. Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia. Br J Haematol 2003; 121: 57-62.
25. Xie Y, de Winter JP, Waisfisz Q, Nieuwint AW, Scheper RJ, Arwert F et al. Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells. Br J Haematol 2000; 111: 1057-1064.
26. Lensch MW, Tischkowitz M, Christianson TA, Reifsteck CA, Speckhart SA, Jakobs PM et al. Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood 2003; 102: 7-16.
27. Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC et al. Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA 1997; 94: 13051-13056.
28. Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet 1999; 65: 1330-1341.
29. Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP et al. Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet 1997; 61: 1246-1253.
30. Levran O, Doggett NA, Auerbach AD. Identification of Alumediated deletions in the Fanconi anemia gene FAA. Hum Mutat 1998; 12: 145-152.
31. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G et al. The importance of diagnostic cytogenetics on outcome in AML: Analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998; 92: 2322-2333.
32. Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996; 33: 550-558.
33. Clark SJ, Harrison J, Paul CL, Frommer M. High sensitivity mapping of methylated cytosines. Nucleic Acids Res 1994; 22: 2990-2997.
34. Grimwade D, Outram SV, Flora R, Ings SJ, Pizzey AR, Morilla R et al. The T-lineage-affiliated CD2 gene lies within an open chromatin environment in acute promyelocytic leukemia cells. Cancer Res 2002; 62: 4730-4735.
35. Gabert J, Beillard E, Van Der Velden VH, Bi W, Grimwade D, Pallisgaard N et al. Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - A Europe Against Cancer Program. Leukemia 2003; 17 (12): 2318-2357.
36. Baylin SB, Herman JG. DNA hypermethylation in tumorigenesis: epigenetics joins genetics. Trends Genet 2000; 16: 168-174.
37. Ianzano L, D'Apolito M, Centra M, Savino M, Levran O, Auerbach AD et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 1997; 41: 309-314.
38. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry study. Blood 1994; 84: 1650-1655.
39. Pedersen-Bjergaard J, Rowley JD. The balanced and the unbalanced chromosome aberrations of acute myeloid leukemia may develop in different ways and may contribute differently to malignant transformation. Blood 1994; 83: 2780-2786.
40. van de Vrugt HJ, Cheng NC, de Vries Y, Rooimans MA, de Groot J, Scheper RJ et al. Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary. Mamm Genome 2000; 11: 326-331.
41. Djuzenova CS, Rothfuss A, Oppitz U, Speit G, Schindler D, Hoehn H et al. Response to X-irradiation of Fanconi anemia homozygous and heterozygous cells assessed by the single-cell gel electrophoresis (comet) assay. Lab Invest 2001; 81: 185-192.
42. Pearson T, Jansen S, Havenga C, Stones DK, Joubert G. Fanconi anemia. A statistical evaluation of cytogenetic results obtained from South African families. Cancer Genet Cytogenet 2001; 126: 52-55.