Fanconi anemia

Fanconi anemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fanconi anemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Fanconi anemia On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Fanconi anemia All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Fanconi anemia
CDC on Fanconi anemia
Fanconi anemia in the news
Blogs on Fanconi anemia
Directions to Hospitals Treating Fanconi anemia
Risk calculators and risk factors for Fanconi anemia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Fanconi anaemia

Diagnosis

Patient#1

• 
• 

Patient #2

• 

See also

• Absent radius

References

• Tischkowitz MD, Hodgson SV. Fanconi anaemia. J.Med.Genet. 2003;40:1-10.
• Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia - clinical and molecular aspects. Br.J.Haematol. 2004;126:176-191.
• Lensch MW, Rathbun RK, Olson SB, Jones GR, Bagby GC, Jr. 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.
• Kutler DI, Auerbach AD. Fanconi anemia in Ashkenazi Jews. Fam.Cancer 2004;3:241-248.
• 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;27:793-797.
• Howlett NG, Taniguchi T, Olson S et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002;297:606-609.
• Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat.Rev.Genet. 2001;2:446-457.
• Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 1989;73:391-396.
• Dokal I. The genetics of Fanconi's anaemia. Baillieres Best.Pract.Res.Clin.Haematol. 2000;13:407-425.
• Kutler DI, Singh B, Satagopan J et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003;101:1249-1256.
• Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer 2003;97:425-440.
• Butturini A, Gale RP, Verlander PC et al. Hematologic abnormalities in Fanconi anemia: an

International Fanconi Anemia Registry study. Blood 1994;84:1650-1655.

• Alter BP, Caruso JP, Drachtman RA et al. Fanconi anemia: myelodysplasia as a predictor of outcome. Cancer Genet.Cytogenet. 2000;117:125-131.
• Auerbach AD, Allen RG. Leukemia and preleukemia in Fanconi anemia patients. A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet.Cytogenet. 1991;51:1-12.
• Tonnies H, Huber S, Kuhl JS et al. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood 2003;101:3872-3874.
• Gluckman E, Auerbach AD, Horowitz MM et al. Bone marrow transplantation for Fanconi anemia. Blood 1995;86:2856-2862.
• Gluckman E. Radiosensitivity in Fanconi anemia: application to the conditioning for bone marrow transplantation. Radiother.Oncol. 1990;18 Suppl 1:88-93.
• Cipolleschi MG, Dello SP, Olivotto M. The role of hypoxia in the maintenance of hematopoietic stem cells. Blood 1993;82:2031-2037.
• Zhang X, Li J, Sejas DP, Pang Q. Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells. Blood 2005
• Naf D, Kupfer GM, Suliman A, Lambert K, D'Andrea AD. Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization. Mol.Cell Biol. 1998;18:5952-5960.
• de Winter JP, Leveille F, van Berkel CG et al. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am.J.Hum.Genet. 2000;67:1306-1308.
• Pagano G, Youssoufian H. Fanconi anaemia proteins: major roles in cell protection against oxidative damage. Bioessays 2003;25:589-595.
• Park SJ, Ciccone SL, Beck BD et al. Oxidative stress/damage induces multimerization and interaction of Fanconi anemia proteins. J.Biol.Chem. 2004;279:30053-30059.
• Connor F, Bertwistle D, Mee PJ et al. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation. Nat.Genet. 1997;17:423-430.
• Meetei AR, de Winter JP, Medhurst AL et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat.Genet. 2003;35:165-170.
• Vandenberg CJ, Gergely F, Ong CY et al. BRCA1-independent ubiquitination of FANCD2. Mol.Cell 2003;12:247-254.
• D'Andrea AD, Dahl N, Guinan EC, Shimamura A. Marrow failure. Hematology.(Am.Soc.Hematol.Educ.Program.) 200258-72.
• Garcia-Higuera I, Taniguchi T, Ganesan S et al. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol.Cell 2001;7:249-262.
• Wang Y, Cortez D, Yazdi P et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 2000;14:927-939.
• Cortez D, Wang Y, Qin J, Elledge SJ. Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science 1999;286:1162-1166.
• Taniguchi T, Garcia-Higuera I, Xu B et al. Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002;109:459-472.
• Kruyt FA, Hoshino T, Liu JM et al. Abnormal microsomal detoxification implicated in Fanconi anemia group C by interaction of the FAC protein with NADPH cytochrome P450 reductase. Blood 1998;92:3050-3056.
• Cumming RC, Lightfoot J, Beard K et al. Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1. Nat.Med. 2001;7:814-820.
• Hadjur S, Ung K, Wadsworth L et al. Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase. Blood 2001;98:1003-1011.
• Pang Q, Fagerlie S, Christianson TA 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. 2000;20:4724-4735.
• Futaki M, Igarashi T, Watanabe S et al. The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. Carcinogenesis 2002;23:67-72.
• de Winter JP, Waisfisz Q, Rooimans MA et al. The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nat.Genet. 1998;20:281-283.
• Clarke AA, Philpott NJ, Gordon-Smith EC, Rutherford TR. 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;96:240-247.

Template:WikiDoc Sources