Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2003 Jan;40(1):1–10. doi: 10.1136/jmg.40.1.1

Fanconi anaemia

M Tischkowitz 1, S Hodgson 1
PMCID: PMC1735271  PMID: 12525534

Full Text

The Full Text of this article is available as a PDF (769.3 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alter B. P. Fanconi's anemia and malignancies. Am J Hematol. 1996 Oct;53(2):99–110. doi: 10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z. [DOI] [PubMed] [Google Scholar]
  2. Alter B. P., Frissora C. L., Halpérin D. S., Freedman M. H., Chitkara U., Alvarez E., Lynch L., Adler-Brecher B., Auerbach A. D. Fanconi's anaemia and pregnancy. Br J Haematol. 1991 Mar;77(3):410–418. doi: 10.1111/j.1365-2141.1991.tb08593.x. [DOI] [PubMed] [Google Scholar]
  3. Alter Blanche P. Radiosensitivity in Fanconi's anemia patients. Radiother Oncol. 2002 Mar;62(3):345–347. doi: 10.1016/s0167-8140(01)00474-1. [DOI] [PubMed] [Google Scholar]
  4. Auerbach A. D. A test for Fanconi's anemia. Blood. 1988 Jul;72(1):366–367. [PubMed] [Google Scholar]
  5. Auerbach A. D., Allen R. G. Leukemia and preleukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet. 1991 Jan;51(1):1–12. doi: 10.1016/0165-4608(91)90002-c. [DOI] [PubMed] [Google Scholar]
  6. Auerbach A. D. Fanconi anemia diagnosis and the diepoxybutane (DEB) test. Exp Hematol. 1993 Jun;21(6):731–733. [PubMed] [Google Scholar]
  7. Auerbach A. D., Sagi M., Adler B. Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics. 1985 Nov;76(5):794–800. [PubMed] [Google Scholar]
  8. Auerbach A. D., Wolman S. R. Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature. 1976 Jun 10;261(5560):494–496. doi: 10.1038/261494a0. [DOI] [PubMed] [Google Scholar]
  9. Ball S. E., Gibson F. M., Rizzo S., Tooze J. A., Marsh J. C., Gordon-Smith E. C. Progressive telomere shortening in aplastic anemia. Blood. 1998 May 15;91(10):3582–3592. [PubMed] [Google Scholar]
  10. Berger R., Bernheim A., Gluckman E., Gisselbrecht C. In vitro effect of cyclophosphamide metabolites on chromosomes of Fanconi anaemia patients. Br J Haematol. 1980 Aug;45(4):565–568. doi: 10.1111/j.1365-2141.1980.tb07179.x. [DOI] [PubMed] [Google Scholar]
  11. Berger R., Le Coniat M., Gendron M. C. Fanconi anemia. Chromosome breakage and cell cycle studies. Cancer Genet Cytogenet. 1993 Aug;69(1):13–16. doi: 10.1016/0165-4608(93)90104-t. [DOI] [PubMed] [Google Scholar]
  12. Boultwood J., Fidler C., Kusec R., Rack K., Elliott P. J., Atoyebi O., Chapman R., Oscier D. G., Wainscoat J. S. Telomere length in myelodysplastic syndromes. Am J Hematol. 1997 Dec;56(4):266–271. doi: 10.1002/(sici)1096-8652(199712)56:4<266::aid-ajh12>3.0.co;2-7. [DOI] [PubMed] [Google Scholar]
  13. Butturini A., Gale R. P., Verlander P. C., Adler-Brecher B., Gillio A. P., Auerbach A. D. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study. Blood. 1994 Sep 1;84(5):1650–1655. [PubMed] [Google Scholar]
  14. Callén Elsa, Samper Enrique, Ramírez María J., Creus Amadeu, Marcos Ricard, Ortega Juan J., Olivé Teresa, Badell Isabel, Blasco María A., Surrallés Jordi. Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. Hum Mol Genet. 2002 Feb 15;11(4):439–444. doi: 10.1093/hmg/11.4.439. [DOI] [PubMed] [Google Scholar]
  15. Centra M., Memeo E., d'Apolito M., Savino M., Ianzano L., Notarangelo A., Liu J., Doggett N. A., Zelante L., Savoia A. Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. Genomics. 1998 Aug 1;51(3):463–467. doi: 10.1006/geno.1998.5353. [DOI] [PubMed] [Google Scholar]
  16. Centurion S. A., Kuo H. R., Lambert W. C. Damage-resistant DNA synthesis in Fanconi anemia cells treated with a DNA cross-linking agent. Exp Cell Res. 2000 Nov 1;260(2):216–221. doi: 10.1006/excr.2000.4995. [DOI] [PubMed] [Google Scholar]
  17. Cerosaletti K. M., Lange E., Stringham H. M., Weemaes C. M., Smeets D., Sölder B., Belohradsky B. H., Taylor A. M., Karnes P., Elliott A. Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype. Am J Hum Genet. 1998 Jul;63(1):125–134. doi: 10.1086/301927. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Chen M., Tomkins D. J., Auerbach W., McKerlie C., Youssoufian H., Liu L., Gan O., Carreau M., Auerbach A., Groves T. Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia. Nat Genet. 1996 Apr;12(4):448–451. doi: 10.1038/ng0496-448. [DOI] [PubMed] [Google Scholar]
  19. Cheng N. C., van de Vrugt H. J., van der Valk M. A., Oostra A. B., Krimpenfort P., de Vries Y., Joenje H., Berns A., Arwert F. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Hum Mol Genet. 2000 Jul 22;9(12):1805–1811. doi: 10.1093/hmg/9.12.1805. [DOI] [PubMed] [Google Scholar]
  20. Clarke A. A., Philpott N. J., Gordon-Smith E. C., 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. 1997 Feb;96(2):240–247. doi: 10.1046/j.1365-2141.1997.d01-2023.x. [DOI] [PubMed] [Google Scholar]
  21. Cumming R. C., Lightfoot J., Beard K., Youssoufian H., O'Brien P. J., Buchwald M. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat Med. 2001 Jul;7(7):814–820. doi: 10.1038/89937. [DOI] [PubMed] [Google Scholar]
  22. Damewood M. D. Ethical implications of a new application of preimplantation diagnosis. JAMA. 2001 Jun 27;285(24):3143–3144. doi: 10.1001/jama.285.24.3143. [DOI] [PubMed] [Google Scholar]
  23. De Kerviler E., Guermazi A., Zagdanski A. M., Gluckman E., Frija J. The clinical and radiological features of Fanconi's anaemia. Clin Radiol. 2000 May;55(5):340–345. doi: 10.1053/crad.2000.0445. [DOI] [PubMed] [Google Scholar]
  24. Deeg H. J., Socié G., Schoch G., Henry-Amar M., Witherspoon R. P., Devergie A., Sullivan K. M., Gluckman E., Storb R. Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Blood. 1996 Jan 1;87(1):386–392. [PubMed] [Google Scholar]
  25. Demuth I., Wlodarski M., Tipping A. J., Morgan N. V., de Winter J. P., Thiel M., Gräsl S., Schindler D., D'Andrea A. D., Altay C. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000 Nov;8(11):861–868. doi: 10.1038/sj.ejhg.5200552. [DOI] [PubMed] [Google Scholar]
  26. Dianzani I., Garelli E., Ramenghi U. Diamond-Blackfan Anaemia: an overview. Paediatr Drugs. 2000 Sep-Oct;2(5):345–355. doi: 10.2165/00128072-200002050-00002. [DOI] [PubMed] [Google Scholar]
  27. Dokal I., Chase A., Morgan N. V., Coulthard S., Hall G., Mathew C. G., Roberts I. Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations. Br J Haematol. 1996 Jun;93(4):813–816. doi: 10.1046/j.1365-2141.1996.d01-1726.x. [DOI] [PubMed] [Google Scholar]
  28. Dokal I. The genetics of Fanconi's anaemia. Baillieres Best Pract Res Clin Haematol. 2000 Sep;13(3):407–425. doi: 10.1053/beha.2000.0085. [DOI] [PubMed] [Google Scholar]
  29. Dutrillaux B., Aurias A., Dutrillaux A. M., Buriot D., Prieur M. The cell cycle of lymphocytes in Fanconi anemia. Hum Genet. 1982;62(4):327–332. doi: 10.1007/BF00304549. [DOI] [PubMed] [Google Scholar]
  30. Escarceller M., Buchwald M., Singleton B. K., Jeggo P. A., Jackson S. P., Moustacchi E., Papadopoulo D. Fanconi anemia C gene product plays a role in the fidelity of blunt DNA end-joining. J Mol Biol. 1998 Jun 5;279(2):375–385. doi: 10.1006/jmbi.1998.1784. [DOI] [PubMed] [Google Scholar]
  31. Escarceller M., Rousset S., Moustacchi E., Papadopoulo D. The fidelity of double strand breaks processing is impaired in complementation groups B and D of Fanconi anemia, a genetic instability syndrome. Somat Cell Mol Genet. 1997 Nov;23(6):401–411. doi: 10.1007/BF02673750. [DOI] [PubMed] [Google Scholar]
  32. Faivre L., Guardiola P., Lewis C., Dokal I., Ebell W., Zatterale A., Altay C., Poole J., Stones D., Kwee M. L. Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. Blood. 2000 Dec 15;96(13):4064–4070. [PubMed] [Google Scholar]
  33. Futaki M., Liu J. M. Chromosomal breakage syndromes and the BRCA1 genome surveillance complex. Trends Mol Med. 2001 Dec;7(12):560–565. doi: 10.1016/s1471-4914(01)02178-5. [DOI] [PubMed] [Google Scholar]
  34. Futaki M., Yamashita T., Yagasaki H., Toda T., Yabe M., Kato S., Asano S., Nakahata T. The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood. 2000 Feb 15;95(4):1493–1498. [PubMed] [Google Scholar]
  35. Futaki Makoto, Igarashi Takehito, Watanabe Shinji, Kajigaya Sachiko, Tatsuguchi Atsushi, Wang Jianxiang, Liu Johnson M. The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. Carcinogenesis. 2002 Jan;23(1):67–72. doi: 10.1093/carcin/23.1.67. [DOI] [PubMed] [Google Scholar]
  36. Galimi Francesco, Noll Meenakshi, Kanazawa Yoshiyuki, Lax Timothy, Chen Cindy, Grompe Markus, Verma Inder M. Gene therapy of Fanconi anemia: preclinical efficacy using lentiviral vectors. Blood. 2002 Oct 15;100(8):2732–2736. doi: 10.1182/blood-2002-04-1245. [DOI] [PubMed] [Google Scholar]
  37. Garcia-Higuera I., Kuang Y., Näf D., Wasik J., D'Andrea A. D. Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Mol Cell Biol. 1999 Jul;19(7):4866–4873. doi: 10.1128/mcb.19.7.4866. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Garcia-Higuera I., Taniguchi T., Ganesan S., Meyn M. S., Timmers C., Hejna J., Grompe M., D'Andrea A. D. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001 Feb;7(2):249–262. doi: 10.1016/s1097-2765(01)00173-3. [DOI] [PubMed] [Google Scholar]
  39. German J., Schonberg S., Caskie S., Warburton D., Falk C., Ray J. H. A test for Fanconi's anemia. Blood. 1987 Jun;69(6):1637–1641. [PubMed] [Google Scholar]
  40. Giampietro P. F., Verlander P. C., Davis J. G., Auerbach A. D. Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study. Am J Med Genet. 1997 Jan 10;68(1):58–61. [PubMed] [Google Scholar]
  41. Gillio A. P., Verlander P. C., Batish S. D., Giampietro P. F., Auerbach A. D. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. Blood. 1997 Jul 1;90(1):105–110. [PubMed] [Google Scholar]
  42. Gluckman E., Devergie A., Dutreix J. Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation. Br J Haematol. 1983 Jul;54(3):431–440. doi: 10.1111/j.1365-2141.1983.tb02117.x. [DOI] [PubMed] [Google Scholar]
  43. Gluckman E. Radiosensitivity in Fanconi anemia: application to the conditioning for bone marrow transplantation. Radiother Oncol. 1990;18 (Suppl 1):88–93. doi: 10.1016/0167-8140(90)90182-v. [DOI] [PubMed] [Google Scholar]
  44. Gregory J. J., Jr, Wagner J. E., Verlander P. C., Levran O., Batish S. D., Eide C. R., Steffenhagen A., Hirsch B., Auerbach A. D. Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells. Proc Natl Acad Sci U S A. 2001 Feb 13;98(5):2532–2537. doi: 10.1073/pnas.051609898. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Grompe M., D'Andrea A. Fanconi anemia and DNA repair. Hum Mol Genet. 2001 Oct 1;10(20):2253–2259. doi: 10.1093/hmg/10.20.2253. [DOI] [PubMed] [Google Scholar]
  46. Guardiola P., Socié G., Pasquini R., Dokal I., Ortega J. J., van Weel-Sipman M., Marsh J., Locatelli F., Souillet G., Cahn J. Y. Allogeneic stem cell transplantation for Fanconi Anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation. Bone Marrow Transplant. 1998 Apr;21 (Suppl 2):S24–S27. [PubMed] [Google Scholar]
  47. Gush K. A., Fu K. L., Grompe M., Walsh C. E. Phenotypic correction of Fanconi anemia group C knockout mice. Blood. 2000 Jan 15;95(2):700–704. [PubMed] [Google Scholar]
  48. Hall J. G. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet. 1987 Feb;24(2):79–83. doi: 10.1136/jmg.24.2.79. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Hanenberg Helmut, Batish Sat Dev, Pollok Karen E., Vieten Lydia, Verlander Peter C., Leurs Cordula, Cooper Ryan J., Göttsche Kerstin, Haneline Laura, Clapp D. Wade. Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. Exp Hematol. 2002 May;30(5):410–420. doi: 10.1016/s0301-472x(02)00782-8. [DOI] [PubMed] [Google Scholar]
  50. Hanson H., Mathew C. G., Docherty Z., Mackie Ogilvie C. Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach. Cytogenet Cell Genet. 2001;93(3-4):203–206. doi: 10.1159/000056985. [DOI] [PubMed] [Google Scholar]
  51. Head D. R. Revised classification of acute myeloid leukemia. Leukemia. 1996 Nov;10(11):1826–1831. [PubMed] [Google Scholar]
  52. Hedberg V. A., Lipton J. M. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol. 1988 Spring;10(1):51–64. doi: 10.1097/00043426-198821000-00010. [DOI] [PubMed] [Google Scholar]
  53. Hoatlin M. E., Zhi Y., Ball H., Silvey K., Melnick A., Stone S., Arai S., Hawe N., Owen G., Zelent A. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. Blood. 1999 Dec 1;94(11):3737–3747. [PubMed] [Google Scholar]
  54. Hoshino T., Wang J., Devetten M. P., Iwata N., Kajigaya S., Wise R. J., Liu J. M., Youssoufian H. Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression. Blood. 1998 Jun 1;91(11):4379–4386. [PubMed] [Google Scholar]
  55. Howlett Niall G., Taniguchi Toshiyasu, Olson Susan, Cox Barbara, Waisfisz Quinten, De Die-Smulders Christine, Persky Nicole, Grompe Markus, Joenje Hans, Pals Gerard. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002 Jun 13;297(5581):606–609. doi: 10.1126/science.1073834. [DOI] [PubMed] [Google Scholar]
  56. Joenje H., Arwert F. Connecting Fanconi anemia to BRCA1. Nat Med. 2001 Apr;7(4):406–407. doi: 10.1038/86458. [DOI] [PubMed] [Google Scholar]
  57. Joenje H., Arwert F., Eriksson A. W., de Koning H., Oostra A. B. Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia. Nature. 1981 Mar 12;290(5802):142–143. doi: 10.1038/290142a0. [DOI] [PubMed] [Google Scholar]
  58. Joenje H., Levitus M., Waisfisz Q., D'Andrea A., Garcia-Higuera I., Pearson T., van Berkel C. G., Rooimans M. A., Morgan N., Mathew C. G. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet. 2000 Aug 8;67(3):759–762. doi: 10.1086/303067. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Joenje H., Oostra A. B., Wijker M., di Summa F. M., van Berkel C. G., Rooimans M. A., Ebell W., van Weel M., Pronk J. C., Buchwald M. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet. 1997 Oct;61(4):940–944. doi: 10.1086/514881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  60. Joenje H., Patel K. J. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet. 2001 Jun;2(6):446–457. doi: 10.1038/35076590. [DOI] [PubMed] [Google Scholar]
  61. Kaplan M. J., Sabio H., Wanebo H. J., Cantrell R. W. Squamous cell carcinoma in the immunosuppressed patient: Fanconi's anemia. Laryngoscope. 1985 Jul;95(7 Pt 1):771–775. [PubMed] [Google Scholar]
  62. Koc A., Pronk J. C., Alikasifoglu M., Joenje H., Altay C. Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family. Br J Haematol. 1999 Jan;104(1):127–130. doi: 10.1046/j.1365-2141.1999.01156.x. [DOI] [PubMed] [Google Scholar]
  63. Koomen Mireille, Cheng Ngan C., van de Vrugt Henri J., Godthelp Barbara C., van der Valk Martin A., Oostra Anneke B., Zdzienicka Malgorzata Z., Joenje Hans, Arwert Fré. Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. Hum Mol Genet. 2002 Feb 1;11(3):273–281. doi: 10.1093/hmg/11.3.273. [DOI] [PubMed] [Google Scholar]
  64. Kruyt F. A., Dijkmans L. M., Arwert F., Joenje H. Involvement of the Fanconi's anemia protein FAC in a pathway that signals to the cyclin B/cdc2 kinase. Cancer Res. 1997 Jun 1;57(11):2244–2251. [PubMed] [Google Scholar]
  65. Kruyt F. A., Dijkmans L. M., van den Berg T. K., Joenje H. Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood. 1996 Feb 1;87(3):938–948. [PubMed] [Google Scholar]
  66. Kruyt F. A., Hoshino T., Liu J. M., Joseph P., Jaiswal A. K., Youssoufian H. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P450 reductase. Blood. 1998 Nov 1;92(9):3050–3056. [PubMed] [Google Scholar]
  67. Kumaresan K. R., Lambert M. W. Fanconi anemia, complementation group A, cells are defective in ability to produce incisions at sites of psoralen interstrand cross-links. Carcinogenesis. 2000 Apr;21(4):741–751. doi: 10.1093/carcin/21.4.741. [DOI] [PubMed] [Google Scholar]
  68. Kupfer G. M., Näf D., Suliman A., Pulsipher M., D'Andrea A. D. The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nat Genet. 1997 Dec;17(4):487–490. doi: 10.1038/ng1297-487. [DOI] [PubMed] [Google Scholar]
  69. Kupfer G. M., Yamashita T., Naf D., Suliman A., Asano S., D'Andrea A. D. The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood. 1997 Aug 1;90(3):1047–1054. [PubMed] [Google Scholar]
  70. Lensch M. W., Rathbun R. K., Olson S. B., Jones G. R., Bagby G. C., Jr Selective pressure as an essential force in molecular evolution of myeloid leukemic clones: a view from the window of Fanconi anemia. Leukemia. 1999 Nov;13(11):1784–1789. doi: 10.1038/sj.leu.2401586. [DOI] [PubMed] [Google Scholar]
  71. Leteurtre F., Li X., Guardiola P., Le Roux G., Sergère J. C., Richard P., Carosella E. D., Gluckman E. Accelerated telomere shortening and telomerase activation in Fanconi's anaemia. Br J Haematol. 1999 Jun;105(4):883–893. doi: 10.1046/j.1365-2141.1999.01445.x. [DOI] [PubMed] [Google Scholar]
  72. Levran O., Doggett N. A., Auerbach A. D. Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Hum Mutat. 1998;12(3):145–152. doi: 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G. [DOI] [PubMed] [Google Scholar]
  73. Levran O., Erlich T., Magdalena N., Gregory J. J., Batish S. D., Verlander P. C., Auerbach A. D. Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051–13056. doi: 10.1073/pnas.94.24.13051. [DOI] [PMC free article] [PubMed] [Google Scholar]
  74. Liu J. M., Auerbach A. D., Young N. S. Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features. Am J Med. 1991 Nov;91(5):555–557. doi: 10.1016/0002-9343(91)90197-6. [DOI] [PubMed] [Google Scholar]
  75. Liu J. M., Kim S., Read E. J., Futaki M., Dokal I., Carter C. S., Leitman S. F., Pensiero M., Young N. S., Walsh C. E. Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC). Hum Gene Ther. 1999 Sep 20;10(14):2337–2346. doi: 10.1089/10430349950016988. [DOI] [PubMed] [Google Scholar]
  76. Liu N., Lamerdin J. E., Tucker J. D., Zhou Z. Q., Walter C. A., Albala J. S., Busch D. B., Thompson L. H. The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. Proc Natl Acad Sci U S A. 1997 Aug 19;94(17):9232–9237. doi: 10.1073/pnas.94.17.9232. [DOI] [PMC free article] [PubMed] [Google Scholar]
  77. Lo Ten Foe J. R., Kwee M. L., Rooimans M. A., Oostra A. B., Veerman A. J., van Weel M., Pauli R. M., Shahidi N. T., Dokal I., Roberts I. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet. 1997 May-Jun;5(3):137–148. [PubMed] [Google Scholar]
  78. Lo Ten Foe J. R., Rooimans M. A., Bosnoyan-Collins L., Alon N., Wijker M., Parker L., Lightfoot J., Carreau M., Callen D. F., Savoia A. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet. 1996 Nov;14(3):320–323. doi: 10.1038/ng1196-320. [DOI] [PubMed] [Google Scholar]
  79. MacMillan M. L., Auerbach A. D., Davies S. M., Defor T. E., Gillio A., Giller R., Harris R., Cairo M., Dusenbery K., Hirsch B. Haematopoietic cell transplantation in patients with Fanconi anaemia using alternate donors: results of a total body irradiation dose escalation trial. Br J Haematol. 2000 Apr;109(1):121–129. doi: 10.1046/j.1365-2141.2000.01955.x. [DOI] [PubMed] [Google Scholar]
  80. Marcou Y., D'Andrea A., Jeggo P. A., Plowman P. N. Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity. Radiother Oncol. 2001 Jul;60(1):75–79. doi: 10.1016/s0167-8140(01)00370-x. [DOI] [PubMed] [Google Scholar]
  81. McCloy M., Almeida A., Daly P., Vulliamy T., Roberts I. A., Dokal I. Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. Br J Haematol. 2001 Feb;112(2):427–429. doi: 10.1046/j.1365-2141.2001.02585.x. [DOI] [PubMed] [Google Scholar]
  82. McMahon L. W., Sangerman J., Goodman S. R., Kumaresan K., Lambert M. W. Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links. Biochemistry. 2001 Jun 19;40(24):7025–7034. doi: 10.1021/bi002917g. [DOI] [PubMed] [Google Scholar]
  83. McMahon L. W., Walsh C. E., Lambert M. W. Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. J Biol Chem. 1999 Nov 12;274(46):32904–32908. doi: 10.1074/jbc.274.46.32904. [DOI] [PubMed] [Google Scholar]
  84. Medhurst A. L., Huber P. A., Waisfisz Q., de Winter J. P., Mathew C. G. Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Hum Mol Genet. 2001 Feb 15;10(4):423–429. doi: 10.1093/hmg/10.4.423. [DOI] [PubMed] [Google Scholar]
  85. Morgan N. V., Tipping A. J., Joenje H., Mathew C. G. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet. 1999 Nov;65(5):1330–1341. doi: 10.1086/302627. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Moses R. E. DNA damage processing defects and disease. Annu Rev Genomics Hum Genet. 2001;2:41–68. doi: 10.1146/annurev.genom.2.1.41. [DOI] [PubMed] [Google Scholar]
  87. Novotná B., Goetz P., Surkova N. I. Effects of alkylating agents on lymphocytes from controls and from patients with Fanconi's anemia. Studies of sister chromatid exchanges, chromosome aberrations, and kinetics of cell division. Hum Genet. 1979 May 23;49(1):41–50. doi: 10.1007/BF00277685. [DOI] [PubMed] [Google Scholar]
  88. Otsuki T., Kajigaya S., Ozawa K., Liu J. M. SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein. Biochem Biophys Res Commun. 1999 Nov 30;265(3):630–635. doi: 10.1006/bbrc.1999.1731. [DOI] [PubMed] [Google Scholar]
  89. Pang Q., Fagerlie S., Christianson T. A., Keeble W., Faulkner G., Diaz J., Rathbun R. K., Bagby G. C. The Fanconi anemia protein FANCC binds to and facilitates the activation of STAT1 by gamma interferon and hematopoietic growth factors. Mol Cell Biol. 2000 Jul;20(13):4724–4735. doi: 10.1128/mcb.20.13.4724-4735.2000. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Pang Q., Keeble W., Christianson T. A., Faulkner G. R., Bagby G. C. FANCC interacts with Hsp70 to protect hematopoietic cells from IFN-gamma/TNF-alpha-mediated cytotoxicity. EMBO J. 2001 Aug 15;20(16):4478–4489. doi: 10.1093/emboj/20.16.4478. [DOI] [PMC free article] [PubMed] [Google Scholar]
  91. Patel K. J., Yu V. P., Lee H., Corcoran A., Thistlethwaite F. C., Evans M. J., Colledge W. H., Friedman L. S., Ponder B. A., Venkitaraman A. R. Involvement of Brca2 in DNA repair. Mol Cell. 1998 Feb;1(3):347–357. doi: 10.1016/s1097-2765(00)80035-0. [DOI] [PubMed] [Google Scholar]
  92. Pavlatos A. M., Fultz O., Monberg M. J., Vootkur A., Pharmd Review of oxymetholone: a 17alpha-alkylated anabolic-androgenic steroid. Clin Ther. 2001 Jun;23(6):789–771. doi: 10.1016/s0149-2918(01)80070-9. [DOI] [PubMed] [Google Scholar]
  93. Potter N. U., Sarmousakis C., Li F. P. Cancer in relatives of patients with aplastic anemia. Cancer Genet Cytogenet. 1983 May;9(1):61–65. doi: 10.1016/0165-4608(83)90025-0. [DOI] [PubMed] [Google Scholar]
  94. Resnick Igor B., Kondratenko Irina, Togoev Oleg, Vasserman Natalia, Shagina Irena, Evgrafov Oleg, Tverskaya Svetlana, Cerosaletti Karen M., Gatti Richard A., Concannon Patrick. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr. 2002 Mar;140(3):355–361. doi: 10.1067/mpd.2002.122724. [DOI] [PubMed] [Google Scholar]
  95. Rey J. P., Scott R., Müller H. Apoptosis is not involved in the hypersensitivity of Fanconi anemia cells to mitomycin C. Cancer Genet Cytogenet. 1994 Jul 1;75(1):67–71. doi: 10.1016/0165-4608(94)90218-6. [DOI] [PubMed] [Google Scholar]
  96. Ridet A., Guillouf C., Duchaud E., Cundari E., Fiore M., Moustacchi E., Rosselli F. Deregulated apoptosis is a hallmark of the Fanconi anemia syndrome. Cancer Res. 1997 May 1;57(9):1722–1730. [PubMed] [Google Scholar]
  97. Rosendorff J., Bernstein R., Macdougall L., Jenkins T. Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet. 1987 Aug;27(4):793–797. doi: 10.1002/ajmg.1320270408. [DOI] [PubMed] [Google Scholar]
  98. Rosselli F. Fanconi anaemia syndrome and apoptosis: state of the art. Apoptosis. 1998 Sep;3(4):229–236. doi: 10.1023/a:1009644722210. [DOI] [PubMed] [Google Scholar]
  99. Rosselli F., Ridet A., Soussi T., Duchaud E., Alapetite C., Moustacchi E. p53-dependent pathway of radio-induced apoptosis is altered in Fanconi anemia. Oncogene. 1995 Jan 5;10(1):9–17. [PubMed] [Google Scholar]
  100. Rosselli F., Sanceau J., Gluckman E., Wietzerbin J., Moustacchi E. Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. II. In vitro and in vivo spontaneous overproduction of tumor necrosis factor alpha. Blood. 1994 Mar 1;83(5):1216–1225. [PubMed] [Google Scholar]
  101. Rosselli F., Sanceau J., Wietzerbin J., Moustacchi E. Abnormal lymphokine production: a novel feature of the genetic disease Fanconi anemia. I. Involvement of interleukin-6. Hum Genet. 1992 Apr;89(1):42–48. doi: 10.1007/BF00207040. [DOI] [PubMed] [Google Scholar]
  102. Rünger T. M., Sobotta P., Dekant B., Möller K., Bauer C., Kraemer K. H. In-vivo assessment of DNA ligation efficiency and fidelity in cells from patients with Fanconi's anemia and other cancer-prone hereditary disorders. Toxicol Lett. 1993 Apr;67(1-3):309–324. doi: 10.1016/0378-4274(93)90064-5. [DOI] [PubMed] [Google Scholar]
  103. Sala-Trepat M., Rouillard D., Escarceller M., Laquerbe A., Moustacchi E., Papadopoulo D. Arrest of S-phase progression is impaired in Fanconi anemia cells. Exp Cell Res. 2000 Nov 1;260(2):208–215. doi: 10.1006/excr.2000.4994. [DOI] [PubMed] [Google Scholar]
  104. Savino M., Ianzano L., Strippoli P., Ramenghi U., Arslanian A., Bagnara G. P., Joenje H., Zelante L., Savoia A. Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. Am J Hum Genet. 1997 Dec;61(6):1246–1253. doi: 10.1086/301632. [DOI] [PMC free article] [PubMed] [Google Scholar]
  105. Schindler D., Kubbies M., Hoehn H., Schinzel A., Rabinovitch P. S. Presymptomatic diagnosis of Fanconi's anaemia. Lancet. 1985 Apr 20;1(8434):937–937. doi: 10.1016/s0140-6736(85)91717-9. [DOI] [PubMed] [Google Scholar]
  106. Schroeder T. M., Tilgen D., Krüger J., Vogel F. Formal genetics of Fanconi's anemia. Hum Genet. 1976 Jun 29;32(3):257–288. doi: 10.1007/BF00295817. [DOI] [PubMed] [Google Scholar]
  107. Schultz J. C., Shahidi N. T. Tumor necrosis factor-alpha overproduction in Fanconi's anemia. Am J Hematol. 1993 Feb;42(2):196–201. doi: 10.1002/ajh.2830420211. [DOI] [PubMed] [Google Scholar]
  108. Seyschab H., Friedl R., Sun Y., Schindler D., Hoehn H., Hentze S., Schroeder-Kurth T. Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia. Blood. 1995 Apr 15;85(8):2233–2237. [PubMed] [Google Scholar]
  109. Smith J., Andrau J. C., Kallenbach S., Laquerbe A., Doyen N., Papadopoulo D. Abnormal rearrangements associated with V(D)J recombination in Fanconi anemia. J Mol Biol. 1998 Sep 4;281(5):815–825. doi: 10.1006/jmbi.1998.1971. [DOI] [PubMed] [Google Scholar]
  110. Stark R., Andre C., Thierry D., Cherel M., Galibert F., Gluckman E. The expression of cytokine and cytokine receptor genes in long-term bone marrow culture in congenital and acquired bone marrow hypoplasias. Br J Haematol. 1993 Apr;83(4):560–566. doi: 10.1111/j.1365-2141.1993.tb04691.x. [DOI] [PubMed] [Google Scholar]
  111. Stark R., Thierry D., Richard P., Gluckman E. Long-term bone marrow culture in Fanconi's anaemia. Br J Haematol. 1993 Apr;83(4):554–559. doi: 10.1111/j.1365-2141.1993.tb04690.x. [DOI] [PubMed] [Google Scholar]
  112. Strathdee C. A., Duncan A. M., Buchwald M. Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet. 1992 Jun;1(3):196–198. doi: 10.1038/ng0692-196. [DOI] [PubMed] [Google Scholar]
  113. Swift M., Caldwell R. J., Chase C. Reassessment of cancer predisposition of Fanconi anemia heterozygotes. J Natl Cancer Inst. 1980 Nov;65(5):863–867. [PubMed] [Google Scholar]
  114. Swift M. Fanconi's anaemia in the genetics of neoplasia. Nature. 1971 Apr 9;230(5293):370–373. doi: 10.1038/230370a0. [DOI] [PubMed] [Google Scholar]
  115. Taniguchi Toshiyasu, Garcia-Higuera Irene, Xu Bo, Andreassen Paul R., Gregory Richard C., Kim Seong-Tae, Lane William S., Kastan Michael B., D'Andrea Alan D. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell. 2002 May 17;109(4):459–472. doi: 10.1016/s0092-8674(02)00747-x. [DOI] [PubMed] [Google Scholar]
  116. Timmers C., Taniguchi T., Hejna J., Reifsteck C., Lucas L., Bruun D., Thayer M., Cox B., Olson S., D'Andrea A. D. Positional cloning of a novel Fanconi anemia gene, FANCD2. Mol Cell. 2001 Feb;7(2):241–248. doi: 10.1016/s1097-2765(01)00172-1. [DOI] [PubMed] [Google Scholar]
  117. Tipping A. J., Pearson T., Morgan N. V., Gibson R. A., Kuyt L. P., Havenga C., Gluckman E., Joenje H., de Ravel T., Jansen S. Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci U S A. 2001 May 8;98(10):5734–5739. doi: 10.1073/pnas.091402398. [DOI] [PMC free article] [PubMed] [Google Scholar]
  118. Toraldo R., Canino G., Tolone C., D'Avanzo M., Porfirio B., Hoehn H., Schroeder-Kurth T., Pistoia V. Variable response to the diepoxybutane test in two dizygotic twins with Fanconi's anemia and flow cytometry for diagnosis confirmation. Pediatr Hematol Oncol. 1998 Jan-Feb;15(1):45–54. doi: 10.3109/08880019809009507. [DOI] [PubMed] [Google Scholar]
  119. Tutt A., Gabriel A., Bertwistle D., Connor F., Paterson H., Peacock J., Ross G., Ashworth A. Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification. Curr Biol. 1999 Oct 7;9(19):1107–1110. doi: 10.1016/s0960-9822(99)80479-5. [DOI] [PubMed] [Google Scholar]
  120. Varon R., Vissinga C., Platzer M., Cerosaletti K. M., Chrzanowska K. H., Saar K., Beckmann G., Seemanová E., Cooper P. R., Nowak N. J. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998 May 1;93(3):467–476. doi: 10.1016/s0092-8674(00)81174-5. [DOI] [PubMed] [Google Scholar]
  121. Verlander P. C., Kaporis A., Liu Q., Zhang Q., Seligsohn U., Auerbach A. D. Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood. 1995 Dec 1;86(11):4034–4038. [PubMed] [Google Scholar]
  122. Verlinsky Y., Rechitsky S., Schoolcraft W., Strom C., Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001 Jun 27;285(24):3130–3133. doi: 10.1001/jama.285.24.3130. [DOI] [PubMed] [Google Scholar]
  123. Waisfisz Q., Morgan N. V., Savino M., de Winter J. P., van Berkel C. G., Hoatlin M. E., Ianzano L., Gibson R. A., Arwert F., Savoia A. Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism. Nat Genet. 1999 Aug;22(4):379–383. doi: 10.1038/11956. [DOI] [PubMed] [Google Scholar]
  124. Waisfisz Q., de Winter J. P., Kruyt F. A., de Groot J., van der Weel L., Dijkmans L. M., Zhi Y., Arwert F., Scheper R. J., Youssoufian H. A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. Proc Natl Acad Sci U S A. 1999 Aug 31;96(18):10320–10325. doi: 10.1073/pnas.96.18.10320. [DOI] [PMC free article] [PubMed] [Google Scholar]
  125. Wajnrajch M. P., Gertner J. M., Huma Z., Popovic J., Lin K., Verlander P. C., Batish S. D., Giampietro P. F., Davis J. G., New M. I. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics. 2001 Apr;107(4):744–754. doi: 10.1542/peds.107.4.744. [DOI] [PubMed] [Google Scholar]
  126. Walsh C. E., Yountz M. R., Simpson D. A. Intracellular localization of the Fanconi anemia complementation group A protein. Biochem Biophys Res Commun. 1999 Jun 16;259(3):594–599. doi: 10.1006/bbrc.1999.0768. [DOI] [PubMed] [Google Scholar]
  127. Whitney M. A., Royle G., Low M. J., Kelly M. A., Axthelm M. K., Reifsteck C., Olson S., Braun R. E., Heinrich M. C., Rathbun R. K. Germ cell defects and hematopoietic hypersensitivity to gamma-interferon in mice with a targeted disruption of the Fanconi anemia C gene. Blood. 1996 Jul 1;88(1):49–58. [PubMed] [Google Scholar]
  128. Wijker M., Morgan N. V., Herterich S., van Berkel C. G., Tipping A. J., Gross H. J., Gille J. J., Pals G., Savino M., Altay C. Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. Eur J Hum Genet. 1999 Jan;7(1):52–59. doi: 10.1038/sj.ejhg.5200248. [DOI] [PubMed] [Google Scholar]
  129. Witt Emily, Ashworth Alan. Biomedicine. D-Day for BRCA2. Science. 2002 Jun 13;297(5581):534–534. doi: 10.1126/science.1074482. [DOI] [PubMed] [Google Scholar]
  130. Yamashita T., Wu N., Kupfer G., Corless C., Joenje H., Grompe M., D'Andrea A. D. 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. 1996 May 15;87(10):4424–4432. [PubMed] [Google Scholar]
  131. de Cremoux P., Gluckman E., Podgorniak M. P., Menier C., Thierry D., Calvo F., Socié G. Decreased IL-1 beta and TNF alpha secretion in long-term bone marrow culture supernatant from Fanconi's anaemia patients. Eur J Haematol. 1996 Sep;57(3):202–207. doi: 10.1111/j.1600-0609.1996.tb01364.x. [DOI] [PubMed] [Google Scholar]
  132. de Winter J. P., Rooimans M. A., van Der Weel L., van Berkel C. G., Alon N., Bosnoyan-Collins L., de Groot J., Zhi Y., Waisfisz Q., Pronk J. C. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000 Jan;24(1):15–16. doi: 10.1038/71626. [DOI] [PubMed] [Google Scholar]
  133. de Winter J. P., Waisfisz Q., Rooimans M. A., van Berkel C. G., Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I., Schindler D. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998 Nov;20(3):281–283. doi: 10.1038/3093. [DOI] [PubMed] [Google Scholar]
  134. de Winter J. P., van der Weel L., de Groot J., Stone S., Waisfisz Q., Arwert F., Scheper R. J., Kruyt F. A., Hoatlin M. E., Joenje H. The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Hum Mol Genet. 2000 Nov 1;9(18):2665–2674. doi: 10.1093/hmg/9.18.2665. [DOI] [PubMed] [Google Scholar]
  135. van de Vrugt H. J., Cheng N. C., de Vries Y., Rooimans M. A., de Groot J., Scheper R. J., Zhi Y., Hoatlin M. E., Joenje H., Arwert F. Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary. Mamm Genome. 2000 Apr;11(4):326–331. doi: 10.1007/s003350010060. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES