Fanconi Anemia

Seminars in Hematology

Volumn 43, Issue 3, 2006, Pages 147-156

  Bagby, Grover C ^a   Alter, Blanche P ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALKYLATING AGENT; ANDROGEN; BRCA1 PROTEIN; BRCA2 PROTEIN; CANCER VACCINE; CISPLATIN; CYCLIN DEPENDENT KINASE 1; GLUCOSE REGULATED PROTEIN 94; GLUTATHIONE TRANSFERASE P1; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 70; HEMOGLOBIN F; IMMUNOSUPPRESSIVE AGENT; INITIATION FACTOR 2ALPHA; JANUS KINASE; MITOMYCIN; PROTEIN TYROSINE KINASE; RAD51 PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE FERRIHEMOPROTEIN REDUCTASE; RETROVIRUS VECTOR; STAT PROTEIN; STAT1 PROTEIN; STAT5 PROTEIN; TUMOR NECROSIS FACTOR ALPHA; XENOBIOTIC AGENT;

ACUTE GRANULOCYTIC LEUKEMIA; ALLELE; AMINO ACID SUBSTITUTION; APOPTOSIS; ARTICLE; BONE MARROW DEPRESSION; CAFE AU LAIT SPOT; CANCER PREVENTION; CANCER RISK; CELL CYCLE ARREST; CELL CYCLE G2 PHASE; CELL CYCLE M PHASE; CELL CYCLE S PHASE; CELL SURVIVAL; CHROMOSOMAL LOCALIZATION; CHROMOSOME ANALYSIS; CHRONIC GRAFT REJECTION; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; DNA STRAND BREAKAGE; DRUG CYTOTOXICITY; EXON; FANCONI ANEMIA; GENE INACTIVATION; GENE TRANSFER; GENETIC HETEROGENEITY; GENETIC TRANSDUCTION; GRAFT REJECTION; GROWTH RETARDATION; GYNECOLOGIC CANCER; HEAD AND NECK CANCER; HEMATOPOIETIC CELL; HUMAN; IATROGENIC DISEASE; IMMUNOBLOTTING; KIDNEY MALFORMATION; KNOCKOUT GENE; LABORATORY DIAGNOSIS; MEGALOCYTOSIS; MICROCEPHALY; MYELODYSPLASTIC SYNDROME; NONHUMAN; NONMYELOABLATIVE CONDITIONING; NONVIRAL GENE DELIVERY SYSTEM; NONVIRAL GENE THERAPY; OXIDATION REDUCTION REACTION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; SIGNAL TRANSDUCTION; SOMATIC CELL; SQUAMOUS CELL CARCINOMA; STEM CELL TRANSPLANTATION; SURVIVAL RATE; SURVIVAL TIME; UBIQUITINATION; XENOBIOTIC METABOLISM;

FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENETIC HETEROGENEITY; HEAT-SHOCK PROTEINS; HUMANS; MODELS, BIOLOGICAL;

EID: 33745583291     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2006.04.005     Document Type: Article

References (86)

1. Fanconi G. Familiare infantile perniziosaartige anaemia (pernizioses blutbild und konstitution). Jahrb Kinderhilkd 117 (1927) 257-280
2. Joenje H., and Patel K.J. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2 (2001) 446-459
3. Alter B.P. Inherited bone marrow failure syndromes. In: Nathan D.G., Orkin S.H., Ginsburg D., and Look A.T. (Eds). Hematology of Infancy and Childhood (2003), Saunders, Philadelphia, PA 280-365
4. Kutler D.I., Singh B., Satagopan J., Batish S.D., Berwick M., Giampietro P.F., et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 101 (2003) 1249-1256
5. Sasaki M.S., and Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 33 (1973) 1829-1836
6. Auerbach A.D., Adler B., and Chaganti R.S. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67 (1981) 128-135
7. Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., et al. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet 36 (2004) 1219-1224
8. Levitus M., Waisfisz Q., Godthelp B.C., Vries Y.D., Hussain S., Wiegant W.W., et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 37 (2005) 934-935
9. Levran O., Attwooll C., Henry R.T., Milton K.L., Neveling K., Rio P., et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet 37 (2005) 931-933
10. Meetei A.R., de Winter J.P., Medhurst A.L., Wallisch M., Waisfisz Q., van de Vrugt H.J., et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 35 (2003) 165-170
11. Bagby G.C. Genetic basis of Fanconi anemia. Curr Opin Hematol 10 (2003) 68-76
12. Howlett N.G., Taniguchi T., Olson S., Cox B., Waisfisz Q., Die-Smulders C., et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 297 (2002) 606-609
13. Garcia-Higuera I., Kuang Y., Naf D., Wasik J., and D'Andrea A.D. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol 19 (1999) 4866-4873
14. Garcia-Higuera I., Taniguchi T., Ganesan S., Meyn M.S., Timmers C., and Hejna J. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell 7 (2001) 249-262
15. Medhurst A.L., Huber P.A., Waisfisz Q., de Winter J., and Mathew C.G. Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet 10 (2001) 423-429
16. Pang Q., Fagerlie S., Christianson T.A., Keeble W., Faulkner G., Diaz J., et al. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol 20 (2000) 4724-4735
17. Pang Q., Keeble W., Christianson T.A., Faulkner G., and Bagby G.C. FANCC interacts with hsp70 to protect hematopoietic cells from IFNγ/TNFα-mediated cytotoxicity. EMBO J 20 (2001) 4478-4489
18. Pang Q.S., Christianson T.A., Keeble W., Koretsky T., and Bagby G.C. The anti-apoptotic function of Hsp70 in the interferon-inducible double-stranded RNA-dependent protein kinase-mediated death signaling pathway requires the Fanconi anemia protein, FANCC. J Biol Chem 277 (2002) 49638-49643
19. Fagerlie S., Lensch M.W., Pang Q., Bagby G.C., and The Fanconi anemia group C gene product. Signaling functions in hematopoietic cells. Exp Hematol 29 (2001) 1371-1381
20. Sobeck A., Stone S., Costanzo V., de Graaf B., Reuter T., de Winter J., et al. Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks. Mol Cell Biol 26 (2006) 425-437
21. Kupfer G.M., Näf D., Suliman A., Pulsipher M., and D'Andrea A.D. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet 17 (1997) 487-490
22. Näf D., Kupfer G.M., Suliman A., Lambert K., and D'Andrea A.D. Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization. Mol Cell Biol 18 (1998) 5952-5960
23. Hoatlin M.E., Christianson T.A., Keeble W.W., Hammond A.T., Zhi Y., Heinrich M.C., et al. The Fanconi anemia group C gene product is located in both the nucleus and cytoplasm of human cells. Blood 91 (1998) 1418-1425
24. Thomashevski A., High A.A., Drozd M., Shabanowitz J., Hunt D.F., Grant P.A., et al. The Fanconi anemia core complex forms 4 different sized complexes in different subcellular compartments. J Biol Chem 79 (2004) 26201-26209
25. Godthelp B.C., Artwert F., Joenje H., and Zdienicka M.Z. Impaired DNA damage-induced nuclear Rad51 foci formation uniquely characterizes Fanconi anemia group D1. Oncogene 21 (2002) 5002-5005
26. Xia F., Taghian D.G., DeFrank J.S., Zeng Z.C., Willers H., Iliakis G., et al. Deficiency of human BRCA2 leads to impaired homologous recombination but maintains normal nonhomologous end joining. Proc Natl Acad Sci U S A 98 (2001) 8644-8649
27. Davies A.A., Masson J., McIlwraith M.J., Stasiak A.Z., Stasiak A., Venkitaraman A.R., et al. Role of BRCA2 in control of the RAD51 recombination and DNA repair protein. Mol Cell 7 (2001) 273-282
28. Gowen L.C., Avrutskaya A.V., Latour A.M., Koller B.H., and Leadon S.A. BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281 (1998) 1009-1012
29. Moynahan M.E., Pierce A.J., and Jasin M. BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 7 (2001) 263-272
30. Aprelikova O., Pace A.J., Fang B., Koller B.H., and Liu E.T. BRCA1 is a selective co-activator of 14-3-3 sigma gene transcription in mouse embryonic stem cells. J Biol Chem 276 (2001) 25647-25650
31. Siddique H., Zou J.P., Rao V.N., and Reddy E.S.P. The BRCA2 is a histone acetyltransferase. Oncogene 16 (1998) 2283-2285
32. Yarden R.I., and Brody L.C. BRCA1 interacts with components of the histone deacetylase complex. Proc Natl Acad Sci U S A 96 (1999) 4983-4988
33. Zhang H.B., Somasundaram K., Peng Y., Tian H., Zhang H.X., Bi D.K., et al. BRCA1 physically associates with p53 and stimulates its transcriptional activity. Oncogene 16 (1998) 1713-1721
34. Gao B., Shen X.N., Kunos G., Meng Q.H., Goldberg I.D., Rosen E.M., et al. Constitutive activation of JAK-STAT3 signaling by BRCA1 in human prostate cancer cells. FEBS Lett 488 (2001) 179-184
35. Kubista M., Rosner M., Kubista E., Bernaschek G., and Hengstschlager M. Brca1 regulates in vitro differentiation of mammary epithelial cells. Oncogene 21 (2002) 4747-4756
36. Zheng L., Li S., Boyer T.G., and Lee W.H. Lessons learned from BRCA1 and BRCA2. Oncogene 19 (2000) 6159-6175
37. Nadler J.J., and Braun R.E. Fanconi anemia complementation group C is required for proliferation of murine primordial germ cells. Genesis 27 (2000) 117-123
38. Koomen M., Cheng N.C., van de Vrugt H.J., Godthelp B.C., Der Valk M.A., Oostra A.B., et al. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet 11 (2002) 273-281
39. Cheng N.C., van de Vrugt H.J., Van der Valk M.A., Oostra A.B., Krimpenfort B., de Vries Y., et al. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum Mol Genet 9 (2000) 1805-1811
40. Rathbun R.K., Faulkner G.R., Ostroski M.H., Christianson T., Hughes G., Jones G., et al. Inactivation of the Fanconi anemia group C (FAC) gene augments interferon-gamma-induced apoptotic responses in hematopoietic cells. Blood 90 (1997) 974-985
41. -/- mice. J Immunol 173 (2004) 3863-3870
42. Beere H.M., Wolf B.B., Cain K., Mosser D.D., Mahboubi A., Kuwana T., et al. Heat-shock protein 70 inhibits apoptosis by preventing recruitment of procaspase-9 to the Apaf-1 apoptosome. Nat Cell Biol 2 (2000) 469-475
43. Beere H.M., and Green D.R. Stress management-Heat shock protein-70 and the regulation of apoptosis. Trends Cell Biol 11 (2001) 6-10
44. Jaattela M., Wissing D., Kokholm K., Kalunki T., and Egeblad M. Hsp70 exerts its anti-apoptotic function downstream of caspase-3-like proteases. EMBO J 17 (1998) 6124-6134
45. Williams B.R. PKR; a sentinel kinase for cellular stress. Oncogene 18 (1999) 6112-6120
46. Pang Q., Keeble W., Diaz J., Christianson T., Fagerlie S., Rathbun K., et al. Role of double-stranded RNA-dependent protein kinase in mediating hypersensitivity of Fanconi anemia complementation group C cells to interferon gamma, tumor necrosis factor-alpha, and double-stranded RNA. Blood 97 (2001) 1644-1652
47. Pagano G. Mitomycin C and diepoxybutane action mechanisms and FANCC protein functions. Further insights into the role for oxidative stress in Fanconi's anaemia phenotype. Carcinogenesis 21 (2000) 1067-1068
48. Clarke A.A., Philpott N.J., Gordon-Smith E.C., and Rutherford T.R. The sensitivity of Fanconi anaemia group C cells to apoptosis induced by mitomycin C is due to oxygen radical generation, not DNA crosslinking. Br J Haematol 96 (1997) 240-247
49. Cumming R.C., Lightfoot J., Beard K., Youssoufian H., O'Brien P.J., and Buchwald M. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med 7 (2001) 814-820
50. Pang Q., Christianson T.A., Keeble W., Diaz J., Faulkner G., Reifsteck C., et al. The Fanconi anemia complementation group C gene product. structural evidence of multifunctionality. Blood 98 (2001) 1392-1401
51. Yamashita T., Wu N., Kupfer G., Corless C., Joenje H., Grompe M., et al. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87 (1996) 4424-4432
52. Rosenberg P.S., Huang Y., and Alter B.P. Individualized risks of first adverse events in patients with Fanconi anemia. Blood 104 (2004) 350-355
53. Verlander P.C., Lin J.D., Udono M.U., Zhang Q., Gibson R.A., Mathew C.G., et al. Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54 (1994) 595-601
54. Futaki M., Yamashita T., Yagasaki H., Toda T., Yabe M., Kato S., et al. The IVS4+4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 95 (2000) 1493-1498
55. Faivre L., Guardiola P., Lewis C.M., Dokal I., Ebell W., Zatterale A., et al. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. Blood 96 (2000) 4064-4070
56. Alter B.P. Cancer in Fanconi anemia, 1927-2001. Cancer 97 (2003) 425-440
57. Mankad A., Taniguchi T., Cox B., Akkari Y., Rathbun R.K., Lucas L., et al. Natural gene therapy in monozygotic twins with Fanconi anemia. Blood 107 (2006) 3084-3090
58. Gregory J.J., Wagner J.E., Verlander P.C., Levran O., Batish S.D., Eide C.R., et al. Somatic mosaicism in Fanconi anemia. Evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci U S A 98 (2001) 2532-2537
59. Alter B.P., Joenje H., Oostra A.B., and Pals G. Fanconi anemia. Adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 131 (2005) 635-639
60. Shimamura A., Montes D.O., Svenson J.L., Haining N., Moreau L.A., Nathan D.G., et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 100 (2002) 4649-4654
61. Hanenberg H., Batish S.D., Pollok K.E., Vieten L., Verlander P.C., Leurs C., et al. Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Exp Hematol 30 (2002) 410-420
62. Chandra S., Levran O., Jurickova I., Maas C., Kapur R., Schindler D., et al. A Rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Mol Ther 12 (2005) 976-984
63. Giampietro P.F., Auerbach A.D., Elias E.R., Gutman A., Zellers N.J., and Davis J.G. New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia. Am J Med Genet 78 (1998) 70-75
64. Vlachos A., and Lipton J.M. Hematopoietic stem cell transplant for inherited bone marrow failure syndromes. In: Mehta P. (Ed). Pediatric Stem Cell Transplantation (2004), Jones and Barlett, Sudbury, MA 281-311
65. Grewal S.S., Kahn J.P., MacMillan M.L., Ramsay N.K.C., and Wanger J.E. Successful hematopoietic stem cell transplantation for Fanconi anemia from an unaffected HLA-genotype-identical sibling selected using preimplantation genetic diagnosis. Blood 103 (2004) 1147-1151
66. Gluckman E. Radiosensitivity in Fanconi anemia. Application to the conditioning for bone marrow transplantation. Radiother Oncol 18 suppl 1 (1990) 88-93
67. Alter B.P. Fanconi's anemia, transplantation, and cancer. Pediatr Transplant 9 suppl 7 (2005) 81-86
68. Boyer M.W., Gross T.G., Loechelt B., Leehuis T., Filipovich A., and Harris R.E. Low risk of graft-versus-host disease with transplantation of CD34 selected peripheral blood progenitor cells from alternative donors for Fanconi anemia. J Pediatr Hematol Oncol 25 (2003) 890-895
69. Velazquez I., and Alter B.P. Androgens and liver tumors. Fanconi's anemia and non-Fanconi's conditions. Am J Hematol 77 (2004) 257-267
70. Li X., Yang Y., Yuan J., Hong P., Freie B., Orazi A., et al. Continuous in vivo infusion of Interferon-gamma (IFN-{gamma}) preferentially reduces myeloid progenitor numbers and enhances engraftment of syngeneic wildtype cells in Fancc-/- mice. Blood 104 (2004) 1204-1209
71. Rosenberg P.S., Greene M.H., and Alter B.P. Cancer incidence in persons with Fanconi anemia. Blood 101 (2003) 822-826
72. Rosenberg P.S., Socie G., Alter B.P., and Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 105 (2005) 67-73
73. Alter B.P. Radiosensitivity in Fanconi's anemia patients. Radiother Oncol 62 (2002) 345-347
74. Herrero R., Hildesheim A., Bratti C., Sherman M.E., Hutchinson M., Morales J., et al. Population-based study of human papillomavirus infection and cervical neoplasia in rural Costa Rica. J Natl Cancer Inst 92 (2000) 464-474
75. Gillison M.L., and Shah K.V. Chapter 9. Role of mucosal human papillomavirus in nongenital cancers. J Natl Cancer Inst Monogr 31 (2003) 57-65
76. Kutler D.I., Wreesmann V.B., Goberdhan A., Ben Porat L., Satagopan J., Ngai I., et al. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 95 (2003) 1718-1721
77. van Zeeburg H.J., Snijders P.J., Joenje H., and Barkenhoff R.H. Re. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 96 (2004) 968-969
78. Fagerlie S.R., and Bagby G.C. Immune defects in Fanconi anemia. Crit Rev Immunol 26 (2006) 81-96
79. Carreau M., Gan O.I., Liu L., Doedens M., McKerlie C., Dick J.E., et al. Bone marrow failure in the Fanconi anemia group C mouse model after DNA damage. Blood 91 (1998) 2737-2744
80. Otsuki T., Wang J., Demuth I., Digweed M., and Liu J.M. Assessment of mitomycin C sensitivity in Fanconi anemia complementation group C gene (Fac) knock-out mouse cells. Int J Hematol 67 (1998) 243-248
81. Alter B.P., Caruso J.P., Drachtman R.A., Uchida T., Velagaleti G.V.N., and Elghetany M.T. Fanconi anemia. Myelodysplasia as a predictor of outcome. Cancer Genet Cytogenet 117 (2000) 125-131
82. Lensch M.W., Rathbun R.K., Olson S.B., Jones G.R., and Bagby G.C. Selective pressure as an essential force in molecular evolution of myeloid leukemic clones. A view from the window of Fanconi anemia. Leukemia 13 (1999) 1784-1789
83. Rubin C.M., Arthur D.C., Woods W.G., Lange B.J., Nowell P.C., Rowley J.D., et al. Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children. Correlation between chromosomal abnormalities and prior therapy. Blood 78 (1991) 2982-2988
84. Whang-Peng J., Young R.C., Lee E.C., Longo D.L., Schecter G.C., and DeVita V.T. Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities. Blood 71 (1988) 403-414
85. Luna-Fineman S., Shannon K.M., and Lange B.J. Childhood monosomy 7. Epidemiology, biology, and mechanistic implications. Blood 85 (1995) 1985-1999
86. Marmorstein L.Y., Ouchi T., and Aaronson S.A. The BRCA2 gene product functionally interacts with p53 and RAD51. Proc Natl Acad Sci U S A 95 (1998) 13869-13874