fanconi anemia

Summary

Summary: Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)

Top Publications

  1. Kim Y, Lach F, Desetty R, Hanenberg H, Auerbach A, Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia. Nat Genet. 2011;43:142-6 pubmed publisher
    b>Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors...
  2. Huard C, Tremblay C, Magron A, Levesque G, Carreau M. The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. Proc Natl Acad Sci U S A. 2014;111:2152-7 pubmed publisher
    b>Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with a progressive decline in hematopoietic stem cells, developmental defects, and predisposition to cancer...
  3. Symington L, Gautier J. Double-strand break end resection and repair pathway choice. Annu Rev Genet. 2011;45:247-71 pubmed publisher
    ..Here, we review the components of the end resection machinery, the role of end structure, and the cell-cycle phase on resection and the interplay of end processing with NHEJ. ..
  4. Sengerová B, Wang A, McHugh P. Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair. Cell Cycle. 2011;10:3999-4008 pubmed publisher
    ..Another nuclease, the Fanconi anemia-associated nuclease (FAN1), has recently been implicated in the repair of ICLs, and we discuss the possible ..
  5. D Andrea A. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med. 2010;362:1909-19 pubmed publisher
  6. Mason J, Sekiguchi J. Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. Hum Mol Genet. 2011;20:2549-59 pubmed publisher
    b>Fanconi anemia (FA) is an inherited chromosomal instability disorder characterized by childhood aplastic anemia, developmental abnormalities and cancer predisposition...
  7. Rosado I, Langevin F, Crossan G, Takata M, Patel K. Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway. Nat Struct Mol Biol. 2011;18:1432-4 pubmed publisher
    ..lethal interaction in avian cells between ADH5, encoding the main formaldehyde-detoxifying enzyme, and the Fanconi anemia (FA) DNA-repair pathway...
  8. Kamimae Lanning A, Goloviznina N, Kurre P. Fetal origins of hematopoietic failure in a murine model of Fanconi anemia. Blood. 2013;121:2008-12 pubmed publisher
    Hematopoietic failure is the predominant clinical manifestation of Fanconi anemia (FA), a rare, recessively inherited disorder...
  9. Han T, Lee C, Yoo C, Shin H, Park H, Cho K, et al. Synchronous multifocal HPV-related neoplasm involving both the genital tract and the head-and-neck area: a case report of Fanconi anemia. Radiother Oncol. 2009;92:138-41 pubmed publisher
    ..Immunofluorescence staining for foci of the monoubiquitinated form of FANCD2 revealed a complete absence of such foci in all cancer tissues that were examined. ..
  10. Garcia M, Fernandez V, Osorio A, Barroso A, Fernandez F, Urioste M, et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis. 2009;30:1898-902 pubmed publisher
    b>Fanconi Anemia (FA) is a rare recessive syndrome characterized by cellular hypersensitivity to DNA-cross-linking agents...

Detail Information

Publications62

  1. Kim Y, Lach F, Desetty R, Hanenberg H, Auerbach A, Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia. Nat Genet. 2011;43:142-6 pubmed publisher
    b>Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors...
  2. Huard C, Tremblay C, Magron A, Levesque G, Carreau M. The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression. Proc Natl Acad Sci U S A. 2014;111:2152-7 pubmed publisher
    b>Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with a progressive decline in hematopoietic stem cells, developmental defects, and predisposition to cancer...
  3. Symington L, Gautier J. Double-strand break end resection and repair pathway choice. Annu Rev Genet. 2011;45:247-71 pubmed publisher
    ..Here, we review the components of the end resection machinery, the role of end structure, and the cell-cycle phase on resection and the interplay of end processing with NHEJ. ..
  4. Sengerová B, Wang A, McHugh P. Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair. Cell Cycle. 2011;10:3999-4008 pubmed publisher
    ..Another nuclease, the Fanconi anemia-associated nuclease (FAN1), has recently been implicated in the repair of ICLs, and we discuss the possible ..
  5. D Andrea A. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med. 2010;362:1909-19 pubmed publisher
  6. Mason J, Sekiguchi J. Snm1B/Apollo functions in the Fanconi anemia pathway in response to DNA interstrand crosslinks. Hum Mol Genet. 2011;20:2549-59 pubmed publisher
    b>Fanconi anemia (FA) is an inherited chromosomal instability disorder characterized by childhood aplastic anemia, developmental abnormalities and cancer predisposition...
  7. Rosado I, Langevin F, Crossan G, Takata M, Patel K. Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway. Nat Struct Mol Biol. 2011;18:1432-4 pubmed publisher
    ..lethal interaction in avian cells between ADH5, encoding the main formaldehyde-detoxifying enzyme, and the Fanconi anemia (FA) DNA-repair pathway...
  8. Kamimae Lanning A, Goloviznina N, Kurre P. Fetal origins of hematopoietic failure in a murine model of Fanconi anemia. Blood. 2013;121:2008-12 pubmed publisher
    Hematopoietic failure is the predominant clinical manifestation of Fanconi anemia (FA), a rare, recessively inherited disorder...
  9. Han T, Lee C, Yoo C, Shin H, Park H, Cho K, et al. Synchronous multifocal HPV-related neoplasm involving both the genital tract and the head-and-neck area: a case report of Fanconi anemia. Radiother Oncol. 2009;92:138-41 pubmed publisher
    ..Immunofluorescence staining for foci of the monoubiquitinated form of FANCD2 revealed a complete absence of such foci in all cancer tissues that were examined. ..
  10. Garcia M, Fernandez V, Osorio A, Barroso A, Fernandez F, Urioste M, et al. Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition. Carcinogenesis. 2009;30:1898-902 pubmed publisher
    b>Fanconi Anemia (FA) is a rare recessive syndrome characterized by cellular hypersensitivity to DNA-cross-linking agents...
  11. Somyajit K, Subramanya S, Nagaraju G. RAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer. Carcinogenesis. 2010;31:2031-8 pubmed publisher
    ..One recent study identifies biallelic mutation in RAD51C leading to Fanconi anemia-like disorder...
  12. Crossan G, van der Weyden L, Rosado I, Langevin F, Gaillard P, McIntyre R, et al. Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia. Nat Genet. 2011;43:147-52 pubmed publisher
    ..knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia. Btbd12-deficient animals are born at sub-Mendelian ratios, have greatly reduced fertility, are ..
  13. Yoshikiyo K, Kratz K, Hirota K, Nishihara K, Takata M, Kurumizaka H, et al. KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents. Proc Natl Acad Sci U S A. 2010;107:21553-7 pubmed publisher
    b>Fanconi anemia (FA) is a rare genetic disease characterized by congenital defects, bone marrow failure, chromosomal instability, and cancer susceptibility...
  14. Singh T, Bakker S, Agarwal S, Jansen M, Grassman E, Godthelp B, et al. Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M. Blood. 2009;114:174-80 pubmed publisher
    FANCM is a component of the Fanconi anemia (FA) core complex and one FA patient (EUFA867) with biallelic mutations in FANCM has been described. Strikingly, we found that EUFA867 also carries biallelic mutations in FANCA...
  15. Adamo A, Collis S, Adelman C, Silva N, Horejsi Z, Ward J, et al. Preventing nonhomologous end joining suppresses DNA repair defects of Fanconi anemia. Mol Cell. 2010;39:25-35 pubmed publisher
    b>Fanconi anemia (FA) is a complex cancer susceptibility disorder associated with DNA repair defects and infertility, yet the precise function of the FA proteins in genome maintenance remains unclear. Here we report that C...
  16. Ali A, Pradhan A, Singh T, Du C, Li J, Wahengbam K, et al. FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. Blood. 2012;119:3285-94 pubmed publisher
    b>Fanconi anemia (FA) nuclear core complex is a multiprotein complex required for the functional integrity of the FA-BRCA pathway regulating DNA repair...
  17. Zhang Q, Marquez Loza L, Eaton L, Duncan A, Goldman D, Anur P, et al. Fancd2-/- mice have hematopoietic defects that can be partially corrected by resveratrol. Blood. 2010;116:5140-8 pubmed publisher
    Progressive bone marrow failure is a major cause of morbidity and mortality in human Fanconi Anemia patients...
  18. Song I, Palle K, Gurkar A, Tateishi S, Kupfer G, Vaziri C. Rad18-mediated translesion synthesis of bulky DNA adducts is coupled to activation of the Fanconi anemia DNA repair pathway. J Biol Chem. 2010;285:31525-36 pubmed publisher
    b>Fanconi anemia (FA) is a cancer susceptibility syndrome characterized by sensitivity to DNA-damaging agents...
  19. Sari N, Akyuz C, Aktas D, Gumruk F, Orhan D, Alikasifoglu M, et al. Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer. 2009;53:208-10 pubmed publisher
    ..This is a novel presentation of Fanconi anemia with this cytogenetic abnormality.
  20. Bernard M, Kim H, Berhane H, Epperly M, Franicola D, Zhang X, et al. GS-nitroxide (JP4-039)-mediated radioprotection of human Fanconi anemia cell lines. Radiat Res. 2011;176:603-12 pubmed
    b>Fanconi anemia (FA) is an inherited disorder characterized by defective DNA repair and cellular sensitivity to DNA crosslinking agents...
  21. Muniandy P, Liu J, Majumdar A, Liu S, Seidman M. DNA interstrand crosslink repair in mammalian cells: step by step. Crit Rev Biochem Mol Biol. 2010;45:23-49 pubmed publisher
    ..Here we will review current understanding of each step in ICL repair in mammalian cells. ..
  22. Schlacher K, Wu H, Jasin M. A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51-BRCA1/2. Cancer Cell. 2012;22:106-16 pubmed publisher
    Genes mutated in patients with Fanconi anemia (FA) interact with the DNA repair genes BRCA1 and BRCA2/FANCD1 to suppress tumorigenesis, but the molecular functions ascribed to them cannot fully explain all of their cellular roles...
  23. Zheng Z, Geng J, Yao R, Li C, Ying D, Shen Y, et al. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. Gene. 2013;530:295-300 pubmed publisher
    b>Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy...
  24. Cybulski K, Howlett N. FANCP/SLX4: a Swiss army knife of DNA interstrand crosslink repair. Cell Cycle. 2011;10:1757-63 pubmed
    b>Fanconi anemia (FA) is a rare genetic disease characterized by congenital abnormalities, bone marrow failure and heightened cancer susceptibility...
  25. Smogorzewska A, Desetty R, Saito T, Schlabach M, Lach F, Sowa M, et al. A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. Mol Cell. 2010;39:36-47 pubmed publisher
    The Fanconi anemia (FA) pathway is responsible for interstrand crosslink repair...
  26. Tremblay C, Huard C, Huang F, Habi O, Bourdages V, Levesque G, et al. The fanconi anemia core complex acts as a transcriptional co-regulator in hairy enhancer of split 1 signaling. J Biol Chem. 2009;284:13384-95 pubmed publisher
    Mutations in one of the 13 Fanconi anemia (FA) genes cause a progressive bone marrow failure disorder associated with developmental abnormalities and a predisposition to cancer...
  27. Dao K, Rotelli M, Petersen C, Kaech S, Nelson W, Yates J, et al. FANCL ubiquitinates ?-catenin and enhances its nuclear function. Blood. 2012;120:323-34 pubmed publisher
    Bone marrow failure is a nearly universal complication of Fanconi anemia. The proteins encoded by FANC genes are involved in DNA damage responses through the formation of a multisubunit nuclear complex that facilitates the E3 ubiquitin ..
  28. Zhang J, Zhao D, Park H, Wang H, Dyer R, Liu W, et al. FAVL elevation in human tumors disrupts Fanconi anemia pathway signaling and promotes genomic instability and tumor growth. J Clin Invest. 2010;120:1524-34 pubmed publisher
    b>Fanconi anemia (FA) is a rare human genetic disease caused by mutations in any one of 13 known genes that encode proteins functioning in one common signaling pathway, the FA pathway, or in unknown genes...
  29. Ceccaldi R, Parmar K, Mouly E, Delord M, Kim J, Regairaz M, et al. Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem Cell. 2012;11:36-49 pubmed publisher
    b>Fanconi anemia (FA) is an inherited DNA repair deficiency syndrome. FA patients undergo progressive bone marrow failure (BMF) during childhood, which frequently requires allogeneic hematopoietic stem cell transplantation...
  30. Alpi A, Patel K. Monoubiquitylation in the Fanconi anemia DNA damage response pathway. DNA Repair (Amst). 2009;8:430-5 pubmed publisher
    The hereditary genetic disorder Fanconi anemia (FA) belongs to the heterogeneous group of diseases associated with defective DNA damage repair...
  31. Shyamsunder P, Vidyasekar P, Shukla A, Mohan S, Verma R. Lowered expression levels of a tumor suppressor gene - caveolin-1 within dysregulated gene networks of Fanconi anemia. Gene. 2013;527:521-8 pubmed publisher
    b>Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure and a predisposition to cancers like acute myeloid leukemia, lung and squamous cell carcinomas...
  32. Su X, Huang J. The Fanconi anemia pathway and DNA interstrand cross-link repair. Protein Cell. 2011;2:704-11 pubmed publisher
    b>Fanconi anemia (FA) is an autosomal or X-linked recessive disorder characterized by chromosomal instability, bone marrow failure, cancer susceptibility, and a profound sensitivity to agents that produce DNA interstrand cross-link (ICL)...
  33. Kupfer G. Fanconi anemia: a signal transduction and DNA repair pathway. Yale J Biol Med. 2013;86:491-7 pubmed
    b>Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility...
  34. Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pages M, et al. Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions. Blood. 2011;117:e161-70 pubmed publisher
    b>Fanconi anemia (FA) is a genetic condition associated with bone marrow (BM) failure, myelodysplasia (MDS), and acute myeloid leukemia (AML)...
  35. Auerbach A. Fanconi anemia and its diagnosis. Mutat Res. 2009;668:4-10 pubmed publisher
    b>Fanconi anemia (FA) is a genetically and phenotypically heterogeneous recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both hematologic malignancies and solid tumors...
  36. Parmar K, Kim J, Sykes S, Shimamura A, Stuckert P, Zhu K, et al. Hematopoietic stem cell defects in mice with deficiency of Fancd2 or Usp1. Stem Cells. 2010;28:1186-95 pubmed publisher
    b>Fanconi anemia (FA) is a human genetic disease characterized by a DNA repair defect and progressive bone marrow failure...
  37. Knipscheer P, Raschle M, Smogorzewska A, Enoiu M, Ho T, SCHARER O, et al. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science. 2009;326:1698-701 pubmed publisher
    b>Fanconi anemia is a human cancer predisposition syndrome caused by mutations in 13 Fanc genes...
  38. Ravera S, Vaccaro D, Cuccarolo P, Columbaro M, Capanni C, Bartolucci M, et al. Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. Biochimie. 2013;95:1828-37 pubmed publisher
    b>Fanconi anemia (FA) is a rare and complex inherited blood disorder of the child. At least 15 genes are associated with the disease. The highest frequency of mutations belongs to groups A, C and G...
  39. Chandrasekharappa S, Lach F, Kimble D, Kamat A, Teer J, Donovan F, et al. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood. 2013;121:e138-48 pubmed publisher
    Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA...
  40. Korthof E, Svahn J, Peffault De Latour R, Terranova P, Moins Teisserenc H, Socie G, et al. Immunological profile of Fanconi anemia: a multicentric retrospective analysis of 61 patients. Am J Hematol. 2013;88:472-6 pubmed publisher
    In this study, the immunological status of 61 patients with Fanconi anemia (FA) with advanced marrow failure before hematopoietic stem cell transplantation was analyzed by assessing the phenotype of peripheral blood lymphocytes, serum ..
  41. Shamseldin H, Elfaki M, Alkuraya F. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012;49:184-6 pubmed publisher
    ..Conclusion This study implicates XRCC2 in the pathogenesis of FA and calls for further investigation of the potential contribution of XRCC2 mutations to the overall mutational load of FA. ..
  42. Ward T, Dudasova Z, Sarkar S, Bhide M, Vlasáková D, Chovanec M, et al. Components of a Fanconi-like pathway control Pso2-independent DNA interstrand crosslink repair in yeast. PLoS Genet. 2012;8:e1002884 pubmed publisher
    b>Fanconi anemia (FA) is a devastating genetic disease, associated with genomic instability and defects in DNA interstrand cross-link (ICL) repair...
  43. Huang M, Kim J, Shiotani B, Yang K, Zou L, D Andrea A. The FANCM/FAAP24 complex is required for the DNA interstrand crosslink-induced checkpoint response. Mol Cell. 2010;39:259-68 pubmed publisher
    Cells from Fanconi anemia (FA) patients are extremely sensitive to DNA interstrand crosslinking (ICL) agents, but the molecular basis of the hypersensitivity remains to be explored...
  44. Cantor S, Guillemette S. Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. Future Oncol. 2011;7:253-61 pubmed publisher
    ..of clinically relevant mutations not only in breast cancer, but also the childhood cancer syndrome, Fanconi anemia. This conclusion is further supported by the direct and functional interaction between FANCJ and the ..
  45. Hiom K. FANCJ: solving problems in DNA replication. DNA Repair (Amst). 2010;9:250-6 pubmed publisher
    ..Here I will discuss the contribution of FANCJ to human disease, its role in maintenance of genome stability and some current thoughts on the mechanisms through which this is achieved. ..
  46. Mohseni Meybodi A, Mozdarani H. DNA damage in leukocytes from Fanconi anemia (FA) patients and heterozygotes induced by mitomycin C and ionizing radiation as assessed by the comet and comet-FISH assay. Iran Biomed J. 2009;13:1-8 pubmed
    Lymphocytes of Fanconi anemia (FA) show an increased sensitivity to the alkylating agents such as mitomycin C (MMC), but their responses to gamma-irradiation is controversial...
  47. Bakker J, van Mil S, Crossan G, Sabbaghian N, De Leeneer K, Poppe B, et al. Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. Hum Mutat. 2013;34:70-3 pubmed publisher
    SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility...
  48. Pulliam Leath A, Ciccone S, Nalepa G, Li X, Si Y, Miravalle L, et al. Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia. Blood. 2010;116:2915-20 pubmed publisher
    b>Fanconi anemia (FA) is an inherited chromosomal instability syndrome characterized by bone marrow failure, myelodysplasia (MDS), and acute myeloid leukemia (AML)...
  49. Zhang F, Fan Q, Ren K, Auerbach A, Andreassen P. FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses. Chromosoma. 2010;119:637-49 pubmed publisher
    ..Given similarities to the recruitment of another Fanconi anemia protein, FANCD2, we tested for colocalization of FANCJ and FANCD2...
  50. Saadatzadeh M, Bijangi Vishehsaraei K, Kapur R, Haneline L. Distinct roles of stress-activated protein kinases in Fanconi anemia-type C-deficient hematopoiesis. Blood. 2009;113:2655-60 pubmed publisher
    The underlying molecular mechanisms that promote bone marrow failure in Fanconi anemia are incompletely understood. Evidence suggests that enhanced apoptosis of hematopoietic precursors is a major contributing factor...
  51. Thompson L, Hinz J. Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled DNA repair: mechanistic insights. Mutat Res. 2009;668:54-72 pubmed publisher
    The Fanconi anemia (FA) molecular network consists of 15 "FANC" proteins, of which 13 are associated with mutations in patients with this cancer-prone chromosome instability disorder...
  52. Langevin F, Crossan G, Rosado I, Arends M, Patel K. Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature. 2011;475:53-8 pubmed publisher
    ..Acetaldehyde-mediated DNA damage may critically contribute to the genesis of fetal alcohol syndrome in fetuses, as well as to abnormal development, haematopoietic failure and cancer predisposition in Fanconi anaemia patients...
  53. Myers K, Bleesing J, Davies S, Zhang X, Martin L, Mueller R, et al. Impaired immune function in children with Fanconi anaemia. Br J Haematol. 2011;154:234-40 pubmed publisher
    ..These findings may be especially relevant in this patient population with known predisposition to DNA damage and malignancy. ..
  54. Panneerselvam J, Park H, Zhang J, Dudimah F, Zhang P, Wang H, et al. FAVL impairment of the Fanconi anemia pathway promotes the development of human bladder cancer. Cell Cycle. 2012;11:2947-55 pubmed publisher
    ..pathways are known to be involved in bladder tumorigenesis; however, DNA cross-link damage response pathway [Fanconi anemia (FA) pathway], whose alterations appear to be a plausible cause of the development of bladder cancer, remains ..
  55. Zhi G, Wilson J, Chen X, Krause D, Xiao Y, Jones N, et al. Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. Cancer Res. 2009;69:8775-83 pubmed publisher
    b>Fanconi anemia is a cancer-prone inherited bone marrow failure and cancer susceptibility syndrome with at least 13 complementation groups (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, and FANCN)...
  56. Joo W, Xu G, Persky N, Smogorzewska A, Rudge D, Buzovetsky O, et al. Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway. Science. 2011;333:312-6 pubmed publisher
    b>Fanconi anemia is a cancer predisposition syndrome caused by defects in the repair of DNA interstrand cross-links (ICLs)...
  57. Ramaekers C, van den Beucken T, Meng A, Kassam S, Thoms J, Bristow R, et al. Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. Radiother Oncol. 2011;101:190-7 pubmed publisher
    ..Here we investigated hypoxic regulation of UBE2T, a ubiquitin ligase required in the Fanconi anemia (FA) DNA repair pathway...