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Volumn 88, Issue 1, 2015, Pages 13-24

Fanconi anaemia: Genetics, molecular biology, and cancer - implications for clinical management in children and adults

Author keywords

Bone marrow failure; Cancer; Congenital abnormalities; Fanconi anaemia

Indexed keywords

BONE MARROW DEPRESSION; CARCINOGENESIS; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); CONGENITAL DISORDER; CONGENITAL MALFORMATION; DUODENUM ATRESIA; FANCONI ANEMIA; FERTILITY; FOREARM; GENE THERAPY; GENETIC ANALYSIS; HAND; HEMATOPOIESIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEREDITY; HUMAN; HYDROCEPHALUS; HYPOPHYSIS DISEASE; KIDNEY DISEASE; MALE INFERTILITY; MENTAL DEFICIENCY; MICROPHTHALMIA; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NEOPLASM; PRIORITY JOURNAL; REVIEW; SHORT STATURE; SKELETON MALFORMATION; SKIN PIGMENTATION; SQUAMOUS CELL CARCINOMA; SUBFERTILITY; URINARY TRACT DISEASE; ADULT; CHILD; COMPLICATION; CONGENITAL ABNORMALITIES; DISEASE MANAGEMENT; FEMALE; GENETICS; GENOTYPE ENVIRONMENT INTERACTION; MALE; NEOPLASMS; PHENOTYPE;

EID: 84930389246     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12517     Document Type: Review
Times cited : (60)

References (103)
  • 1
    • 0001306494 scopus 로고
    • Familiäre, infantile, perniziosaartige Anämie (perniziöses Blutbild und Konstitution)
    • Fanconi G. Familiäre, infantile, perniziosaartige Anämie (perniziöses Blutbild und Konstitution). Jb Kinderheilk 1927: 117: 257.
    • (1927) Jb Kinderheilk , vol.117 , pp. 257
    • Fanconi, G.1
  • 2
    • 0006730436 scopus 로고
    • Blutkrankheiten und Blutdiagnostik
    • In: . Berlin: Julius Springer
    • Naegeli O. Blutkrankheiten und Blutdiagnostik. In: Lehrbuch der Klinischen Hämatologie. Berlin: Julius Springer, 1931.
    • (1931) Lehrbuch der Klinischen Hämatologie
    • Naegeli, O.1
  • 3
    • 84930406438 scopus 로고
    • Book notices: Blutkrankheiten und Blutdiagnostik: Lehrbuch der klinischen Hämatologie
    • Grafe E. Book notices: Blutkrankheiten und Blutdiagnostik: Lehrbuch der klinischen Hämatologie. JAMA 1931: 97: 344.
    • (1931) JAMA , vol.97 , pp. 344
    • Grafe, E.1
  • 4
    • 67650451108 scopus 로고    scopus 로고
    • Fanconi anemia and its diagnosis
    • Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res 2009: 668: 4-10.
    • (2009) Mutat Res , vol.668 , pp. 4-10
    • Auerbach, A.D.1
  • 5
    • 0037441757 scopus 로고    scopus 로고
    • A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
    • Kutler DI, Singh B, Satagopan J et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003: 101: 1249-1256.
    • (2003) Blood , vol.101 , pp. 1249-1256
    • Kutler, D.I.1    Singh, B.2    Satagopan, J.3
  • 6
    • 67650403821 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Fanconi anemia
    • Neveling K, Endt D, Hoehn H, Schindler D. Genotype-phenotype correlations in Fanconi anemia. Mutat Res 2009: 668: 73-91.
    • (2009) Mutat Res , vol.668 , pp. 73-91
    • Neveling, K.1    Endt, D.2    Hoehn, H.3    Schindler, D.4
  • 7
    • 33645091213 scopus 로고    scopus 로고
    • Delayed diagnosis and complications of Fanconi anaemia at advanced age - a paradigm
    • Huck K, Hanenberg H, Gudowius S et al. Delayed diagnosis and complications of Fanconi anaemia at advanced age - a paradigm. Br J Haematol 2006: 133: 188-197.
    • (2006) Br J Haematol , vol.133 , pp. 188-197
    • Huck, K.1    Hanenberg, H.2    Gudowius, S.3
  • 8
    • 23344449113 scopus 로고    scopus 로고
    • Should chromosome breakage studies be performed in patients with VACTERL association?
    • Faivre L, Portnoi MF, Pals G et al. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005: 137: 55-58.
    • (2005) Am J Med Genet A , vol.137 , pp. 55-58
    • Faivre, L.1    Portnoi, M.F.2    Pals, G.3
  • 9
    • 0015891353 scopus 로고
    • A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents
    • Sasaki MS, Tonomura A. A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents. Cancer Res 1973: 33: 1829-1836.
    • (1973) Cancer Res , vol.33 , pp. 1829-1836
    • Sasaki, M.S.1    Tonomura, A.2
  • 10
    • 84873826884 scopus 로고    scopus 로고
    • Diagnosis of fanconi anemia: chromosomal breakage analysis
    • Oostra AB, Nieuwint AW, Joenje H, de Winter JP. Diagnosis of fanconi anemia: chromosomal breakage analysis. Anemia 2012: 2012: 238731.
    • (2012) Anemia , vol.2012 , pp. 238731
    • Oostra, A.B.1    Nieuwint, A.W.2    Joenje, H.3    de Winter, J.P.4
  • 11
    • 0037114696 scopus 로고    scopus 로고
    • A novel diagnostic screen for defects in the Fanconi anemia pathway
    • Shimamura A, Montes de Oca R, Svenson JL et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. Blood 2002: 100: 4649-4654.
    • (2002) Blood , vol.100 , pp. 4649-4654
    • Shimamura, A.1    Montes de Oca, R.2    Svenson, J.L.3
  • 12
    • 12644293813 scopus 로고    scopus 로고
    • Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance
    • Lo Ten Foe JR, Kwee ML, Rooimans MA et al. Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance. Eur J Hum Genet 1997: 5: 137-148.
    • (1997) Eur J Hum Genet , vol.5 , pp. 137-148
    • Lo Ten Foe, J.R.1    Kwee, M.L.2    Rooimans, M.A.3
  • 13
    • 18444362122 scopus 로고    scopus 로고
    • Biallelic inactivation of BRCA2 in Fanconi anemia
    • Howlett NG, Taniguchi T, Olson S et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002: 297: 606-609.
    • (2002) Science , vol.297 , pp. 606-609
    • Howlett, N.G.1    Taniguchi, T.2    Olson, S.3
  • 14
    • 84894062776 scopus 로고    scopus 로고
    • Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
    • Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG. Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling. J Med Genet 2014: 51: 71-75.
    • (2014) J Med Genet , vol.51 , pp. 71-75
    • Meyer, S.1    Tischkowitz, M.2    Chandler, K.3    Gillespie, A.4    Birch, J.M.5    Evans, D.G.6
  • 15
    • 33846569450 scopus 로고    scopus 로고
    • Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    • Reid S, Schindler D, Hanenberg H et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007: 39: 162-164.
    • (2007) Nat Genet , vol.39 , pp. 162-164
    • Reid, S.1    Schindler, D.2    Hanenberg, H.3
  • 16
    • 33846601829 scopus 로고    scopus 로고
    • Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
    • Xia B, Dorsman JC, Ameziane N et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007: 39: 159-161.
    • (2007) Nat Genet , vol.39 , pp. 159-161
    • Xia, B.1    Dorsman, J.C.2    Ameziane, N.3
  • 17
    • 77957329128 scopus 로고    scopus 로고
    • PALB2/FANCN: recombining cancer and Fanconi anemia
    • Tischkowitz M, Xia B. PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res 2010: 70: 7353-7359.
    • (2010) Cancer Res , vol.70 , pp. 7353-7359
    • Tischkowitz, M.1    Xia, B.2
  • 18
    • 25144457604 scopus 로고    scopus 로고
    • The DNA helicase BRIP1 is defective in Fanconi anemia complementation group
    • Levitus M, Waisfisz Q, Godthelp BC et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group. Nat Genet 2005: 37: 934-935.
    • (2005) Nat Genet , vol.37 , pp. 934-935
    • Levitus, M.1    Waisfisz, Q.2    Godthelp, B.C.3
  • 19
    • 77951747926 scopus 로고    scopus 로고
    • Mutation of the RAD51C gene in a Fanconi anemia-like disorder
    • Vaz F, Hanenberg H, Schuster B et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet 2010: 42: 406-409.
    • (2010) Nat Genet , vol.42 , pp. 406-409
    • Vaz, F.1    Hanenberg, H.2    Schuster, B.3
  • 20
    • 84859484153 scopus 로고    scopus 로고
    • Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
    • Shamseldin HE, Elfaki M, Alkuraya FS. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet 2012: 49: 184-186.
    • (2012) J Med Genet , vol.49 , pp. 184-186
    • Shamseldin, H.E.1    Elfaki, M.2    Alkuraya, F.S.3
  • 21
    • 84859479737 scopus 로고    scopus 로고
    • Rare mutations in XRCC2 increase the risk of breast cancer
    • Park DJ, Lesueur F, Nguyen-Dumont T et al. Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet 2012: 90: 734-739.
    • (2012) Am J Hum Genet , vol.90 , pp. 734-739
    • Park, D.J.1    Lesueur, F.2    Nguyen-Dumont, T.3
  • 22
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    • Meindl A, Hellebrand H, Wiek C et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet 2010: 42: 410-414.
    • (2010) Nat Genet , vol.42 , pp. 410-414
    • Meindl, A.1    Hellebrand, H.2    Wiek, C.3
  • 23
    • 84876424557 scopus 로고    scopus 로고
    • Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
    • Domchek SM, Tang J, Stopfer J et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov 2013: 3: 399-405.
    • (2013) Cancer Discov , vol.3 , pp. 399-405
    • Domchek, S.M.1    Tang, J.2    Stopfer, J.3
  • 24
    • 84877584276 scopus 로고    scopus 로고
    • Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia
    • Bogliolo M, Schuster B, Stoepker C et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet 2013: 92: 800-806.
    • (2013) Am J Hum Genet , vol.92 , pp. 800-806
    • Bogliolo, M.1    Schuster, B.2    Stoepker, C.3
  • 26
    • 35148853561 scopus 로고    scopus 로고
    • Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer
    • Berwick M, Satagopan JM, Ben-Porat L et al. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 2007: 67: 9591-9596.
    • (2007) Cancer Res , vol.67 , pp. 9591-9596
    • Berwick, M.1    Satagopan, J.M.2    Ben-Porat, L.3
  • 27
    • 80054973810 scopus 로고    scopus 로고
    • Mutations in BRIP1 confer high risk of ovarian cancer
    • Rafnar T, Gudbjartsson DF, Sulem P et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 2011: 43: 1104-1107.
    • (2011) Nat Genet , vol.43 , pp. 1104-1107
    • Rafnar, T.1    Gudbjartsson, D.F.2    Sulem, P.3
  • 28
    • 33750465216 scopus 로고    scopus 로고
    • Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
    • Seal S, Thompson D, Renwick A et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 2006: 38: 1239-1241.
    • (2006) Nat Genet , vol.38 , pp. 1239-1241
    • Seal, S.1    Thompson, D.2    Renwick, A.3
  • 29
    • 84870475682 scopus 로고    scopus 로고
    • Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma
    • Smetsers S, Muter J, Bristow C et al. Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma. Fam Cancer 2012: 11: 661-665.
    • (2012) Fam Cancer , vol.11 , pp. 661-665
    • Smetsers, S.1    Muter, J.2    Bristow, C.3
  • 30
    • 34247576595 scopus 로고    scopus 로고
    • Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype
    • Kalb R, Neveling K, Hoehn H et al. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype. Am J Hum Genet 2007: 80: 895-910.
    • (2007) Am J Hum Genet , vol.80 , pp. 895-910
    • Kalb, R.1    Neveling, K.2    Hoehn, H.3
  • 31
    • 79959635260 scopus 로고    scopus 로고
    • DNA interstrand crosslink repair and cancer
    • Deans AJ, West SC. DNA interstrand crosslink repair and cancer. Nat Rev Cancer 2011: 11: 467-480.
    • (2011) Nat Rev Cancer , vol.11 , pp. 467-480
    • Deans, A.J.1    West, S.C.2
  • 32
    • 49049091162 scopus 로고    scopus 로고
    • Interstrand DNA cross-links induced by alpha,beta-unsaturated aldehydes derived from lipid peroxidation and environmental sources
    • Stone MP, Cho YJ, Huang H et al. Interstrand DNA cross-links induced by alpha, beta-unsaturated aldehydes derived from lipid peroxidation and environmental sources. Acc Chem Res 2008: 41: 793-804.
    • (2008) Acc Chem Res , vol.41 , pp. 793-804
    • Stone, M.P.1    Cho, Y.J.2    Huang, H.3
  • 33
    • 79960037006 scopus 로고    scopus 로고
    • Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice
    • Langevin F, Crossan GP, Rosado IV, Arends MJ, Patel KJ. Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature 2011: 475: 53-58.
    • (2011) Nature , vol.475 , pp. 53-58
    • Langevin, F.1    Crossan, G.P.2    Rosado, I.V.3    Arends, M.J.4    Patel, K.J.5
  • 34
    • 84866952680 scopus 로고    scopus 로고
    • Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function
    • Garaycoechea JI, Crossan GP, Langevin F et al. Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function. Nature 2012: 489: 571-575.
    • (2012) Nature , vol.489 , pp. 571-575
    • Garaycoechea, J.I.1    Crossan, G.P.2    Langevin, F.3
  • 35
    • 82955235602 scopus 로고    scopus 로고
    • Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway
    • Rosado IV, Langevin F, Crossan GP, Takata M, Patel KJ. Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway. Nat Struct Mol Biol 2011: 18: 1432-1434.
    • (2011) Nat Struct Mol Biol , vol.18 , pp. 1432-1434
    • Rosado, I.V.1    Langevin, F.2    Crossan, G.P.3    Takata, M.4    Patel, K.J.5
  • 36
    • 84891599913 scopus 로고    scopus 로고
    • Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients
    • Hira A, Yabe H, Yoshida K et al. Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood 2013: 122: 3206-3209.
    • (2013) Blood , vol.122 , pp. 3206-3209
    • Hira, A.1    Yabe, H.2    Yoshida, K.3
  • 37
    • 33846799430 scopus 로고    scopus 로고
    • Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM
    • Ciccia A, Ling C, Coulthard R et al. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell 2007: 25: 331-343.
    • (2007) Mol Cell , vol.25 , pp. 331-343
    • Ciccia, A.1    Ling, C.2    Coulthard, R.3
  • 38
    • 84863350996 scopus 로고    scopus 로고
    • Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair
    • Leung JW, Wang Y, Fong KW, Huen MS, Li L, Chen J. Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair. Proc Natl Acad Sci U S A 2012: 109: 4491-4496.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 4491-4496
    • Leung, J.W.1    Wang, Y.2    Fong, K.W.3    Huen, M.S.4    Li, L.5    Chen, J.6
  • 39
    • 84891803918 scopus 로고    scopus 로고
    • The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes
    • Zhao Q, Saro D, Sachpatzidis A et al. The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes. Nat Commun 2014: 5: 2987.
    • (2014) Nat Commun , vol.5 , pp. 2987
    • Zhao, Q.1    Saro, D.2    Sachpatzidis, A.3
  • 40
    • 84899948111 scopus 로고    scopus 로고
    • The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability
    • Fox D 3rd, Yan Z, Ling C et al. The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability. Cell Res 2014: 24: 560-575.
    • (2014) Cell Res , vol.24 , pp. 560-575
    • Fox, D.1    Yan, Z.2    Ling, C.3
  • 41
    • 84872578210 scopus 로고    scopus 로고
    • Fanconi anaemia and the repair of Watson and Crick DNA crosslinks
    • Kottemann MC, Smogorzewska A. Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature 2013: 493: 356-363.
    • (2013) Nature , vol.493 , pp. 356-363
    • Kottemann, M.C.1    Smogorzewska, A.2
  • 42
    • 84896786442 scopus 로고    scopus 로고
    • The carboxy terminus of FANCE recruits FANCD2 to the FA E3 ligase complex to promote the fanconi anemia DNA repair pathway
    • Polito D, Cukras S, Wang X et al. The carboxy terminus of FANCE recruits FANCD2 to the FA E3 ligase complex to promote the fanconi anemia DNA repair pathway. J Biol Chem 2014: 289 (10): 7003-7010.
    • (2014) J Biol Chem , vol.289 , Issue.10 , pp. 7003-7010
    • Polito, D.1    Cukras, S.2    Wang, X.3
  • 43
    • 0141484612 scopus 로고    scopus 로고
    • A novel ubiquitin ligase is deficient in Fanconi anemia
    • Meetei AR, de Winter JP, Medhurst AL et al. A novel ubiquitin ligase is deficient in Fanconi anemia. Nat Genet 2003: 35: 165-170.
    • (2003) Nat Genet , vol.35 , pp. 165-170
    • Meetei, A.R.1    de Winter, J.P.2    Medhurst, A.L.3
  • 44
    • 34249947699 scopus 로고    scopus 로고
    • ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage
    • Matsuoka S, Ballif BA, Smogorzewska A et al. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 2007: 316: 1160-1166.
    • (2007) Science , vol.316 , pp. 1160-1166
    • Matsuoka, S.1    Ballif, B.A.2    Smogorzewska, A.3
  • 45
    • 4043133287 scopus 로고    scopus 로고
    • ATR couples FANCD2 monoubiquitination to the DNA-damage response
    • Andreassen PR, D'Andrea AD, Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev 2004: 18: 1958-1963.
    • (2004) Genes Dev , vol.18 , pp. 1958-1963
    • Andreassen, P.R.1    D'Andrea, A.D.2    Taniguchi, T.3
  • 46
    • 79952454660 scopus 로고    scopus 로고
    • ATR: a master conductor of cellular responses to DNA replication stress
    • Flynn RL, Zou L. ATR: a master conductor of cellular responses to DNA replication stress. Trends Biochem Sci 2011: 36: 133-140.
    • (2011) Trends Biochem Sci , vol.36 , pp. 133-140
    • Flynn, R.L.1    Zou, L.2
  • 47
    • 84863244765 scopus 로고    scopus 로고
    • ATR-ATRIP kinase complex triggers activation of the Fanconi anemia DNA repair pathway
    • Shigechi T, Tomida J, Sato K et al. ATR-ATRIP kinase complex triggers activation of the Fanconi anemia DNA repair pathway. Cancer Res 2012: 72: 1149-1156.
    • (2012) Cancer Res , vol.72 , pp. 1149-1156
    • Shigechi, T.1    Tomida, J.2    Sato, K.3
  • 48
    • 55549137026 scopus 로고    scopus 로고
    • FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway
    • Ishiai M, Kitao H, Smogorzewska A et al. FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. Nat Struct Mol Biol 2008: 15: 1138-1146.
    • (2008) Nat Struct Mol Biol , vol.15 , pp. 1138-1146
    • Ishiai, M.1    Kitao, H.2    Smogorzewska, A.3
  • 49
    • 34249281152 scopus 로고    scopus 로고
    • FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
    • Sims AE, Spiteri E, Sims RJ 3rd et al. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat Struct Mol Biol 2007: 14: 564-567.
    • (2007) Nat Struct Mol Biol , vol.14 , pp. 564-567
    • Sims, A.E.1    Spiteri, E.2    Sims, R.J.3
  • 50
    • 34247110291 scopus 로고    scopus 로고
    • Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair
    • Smogorzewska A, Matsuoka S, Vinciguerra P et al. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell 2007: 129: 289-301.
    • (2007) Cell , vol.129 , pp. 289-301
    • Smogorzewska, A.1    Matsuoka, S.2    Vinciguerra, P.3
  • 51
    • 84899991195 scopus 로고    scopus 로고
    • XPF-ERCC1 acts in unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4
    • Klein Douwel D, Boonen RA, Long DT et al. XPF-ERCC1 acts in unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4. Mol Cell 2014: 54: 460-471.
    • (2014) Mol Cell , vol.54 , pp. 460-471
    • Klein Douwel, D.1    Boonen, R.A.2    Long, D.T.3
  • 52
    • 84899918056 scopus 로고    scopus 로고
    • Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair
    • Hodskinson MR, Silhan J, Crossan GP et al. Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair. Mol Cell 2014: 54: 472-484.
    • (2014) Mol Cell , vol.54 , pp. 472-484
    • Hodskinson, M.R.1    Silhan, J.2    Crossan, G.P.3
  • 53
    • 84870684690 scopus 로고    scopus 로고
    • CtIP is required to initiate replication-dependent interstrand crosslink repair
    • Duquette ML, Zhu Q, Taylor ER et al. CtIP is required to initiate replication-dependent interstrand crosslink repair. PLoS Genet 2012: 8: e1003050.
    • (2012) PLoS Genet , vol.8 , pp. e1003050
    • Duquette, M.L.1    Zhu, Q.2    Taylor, E.R.3
  • 54
    • 84901281433 scopus 로고    scopus 로고
    • FANCD2 and CtIP cooperate to repair DNA interstrand crosslinks
    • Murina O, von Aesch C, Karakus U et al. FANCD2 and CtIP cooperate to repair DNA interstrand crosslinks. Cell Rep 2014: 7 (4): 1030-1038.
    • (2014) Cell Rep , vol.7 , Issue.4 , pp. 1030-1038
    • Murina, O.1    von Aesch, C.2    Karakus, U.3
  • 55
    • 84901263371 scopus 로고    scopus 로고
    • FANCD2 binds CtIP and regulates DNA-end resection during DNA interstrand crosslink repair
    • Unno J, Itaya A, Taoka M et al. FANCD2 binds CtIP and regulates DNA-end resection during DNA interstrand crosslink repair. Cell Rep 2014: 7 (4): 1039-1047.
    • (2014) Cell Rep , vol.7 , Issue.4 , pp. 1039-1047
    • Unno, J.1    Itaya, A.2    Taoka, M.3
  • 56
    • 79951688343 scopus 로고    scopus 로고
    • BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair
    • Nimonkar AV, Genschel J, Kinoshita E et al. BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. Genes Dev 2011: 25: 350-362.
    • (2011) Genes Dev , vol.25 , pp. 350-362
    • Nimonkar, A.V.1    Genschel, J.2    Kinoshita, E.3
  • 57
    • 77955868586 scopus 로고    scopus 로고
    • Translesion DNA synthesis polymerases in DNA interstrand crosslink repair
    • Ho TV, Scharer OD. Translesion DNA synthesis polymerases in DNA interstrand crosslink repair. Environ Mol Mutagen 2010: 51: 552-566.
    • (2010) Environ Mol Mutagen , vol.51 , pp. 552-566
    • Ho, T.V.1    Scharer, O.D.2
  • 58
    • 13244291457 scopus 로고    scopus 로고
    • The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway
    • Nijman SM, Huang TT, Dirac AM et al. The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway. Mol Cell 2005: 17: 331-339.
    • (2005) Mol Cell , vol.17 , pp. 331-339
    • Nijman, S.M.1    Huang, T.T.2    Dirac, A.M.3
  • 59
    • 84860735406 scopus 로고    scopus 로고
    • The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters
    • Du W, Rani R, Sipple J et al. The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters. Blood 2012: 119: 4142-4151.
    • (2012) Blood , vol.119 , pp. 4142-4151
    • Du, W.1    Rani, R.2    Sipple, J.3
  • 60
    • 36048948219 scopus 로고    scopus 로고
    • TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells
    • Li J, Sejas DP, Zhang X et al. TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells. J Clin Invest 2007: 117: 3283-3295.
    • (2007) J Clin Invest , vol.117 , pp. 3283-3295
    • Li, J.1    Sejas, D.P.2    Zhang, X.3
  • 61
    • 22044452387 scopus 로고    scopus 로고
    • Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells
    • Zhang X, Li J, Sejas DP, Pang Q. Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells. Blood 2005: 106: 75-85.
    • (2005) Blood , vol.106 , pp. 75-85
    • Zhang, X.1    Li, J.2    Sejas, D.P.3    Pang, Q.4
  • 62
    • 0032956991 scopus 로고    scopus 로고
    • Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family
    • Koc A, Pronk JC, 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: 104: 127-130.
    • (1999) Br J Haematol , vol.104 , pp. 127-130
    • Koc, A.1    Pronk, J.C.2    Alikasifoglu, M.3    Joenje, H.4    Altay, C.5
  • 64
    • 84907883498 scopus 로고    scopus 로고
    • Pollicisation of the index finger in Fanconi anaemia: appearances and functionality forty years after the intervention
    • Stivaros SM, Punekar M, Chandler K, Rost I, Schindler D, Meyer S. Pollicisation of the index finger in Fanconi anaemia: appearances and functionality forty years after the intervention. Br J Haematol 2014: 166 (6): 807.
    • (2014) Br J Haematol , vol.166 , Issue.6 , pp. 807
    • Stivaros, S.M.1    Punekar, M.2    Chandler, K.3    Rost, I.4    Schindler, D.5    Meyer, S.6
  • 65
    • 84874098317 scopus 로고    scopus 로고
    • VACTERL-H association and fanconi anemia
    • Alter BP, Rosenberg PS. VACTERL-H association and fanconi anemia. Mol Syndromol 2013: 4: 87-93.
    • (2013) Mol Syndromol , vol.4 , pp. 87-93
    • Alter, B.P.1    Rosenberg, P.S.2
  • 67
    • 84863625900 scopus 로고    scopus 로고
    • Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells
    • Ceccaldi R, Parmar K, Mouly E 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.
    • (2012) Cell Stem Cell , vol.11 , pp. 36-49
    • Ceccaldi, R.1    Parmar, K.2    Mouly, E.3
  • 68
    • 42149116279 scopus 로고    scopus 로고
    • Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
    • Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica 2008: 93: 511-517.
    • (2008) Haematologica , vol.93 , pp. 511-517
    • Rosenberg, P.S.1    Alter, B.P.2    Ebell, W.3
  • 69
    • 84856402751 scopus 로고    scopus 로고
    • Treatment of the bone marrow failure in Fanconi anemia patients with danazol
    • Scheckenbach K, Morgan M, Filger-Brillinger J et al. Treatment of the bone marrow failure in Fanconi anemia patients with danazol. Blood Cells Mol Dis 2012: 48: 128-131.
    • (2012) Blood Cells Mol Dis , vol.48 , pp. 128-131
    • Scheckenbach, K.1    Morgan, M.2    Filger-Brillinger, J.3
  • 70
    • 84891814561 scopus 로고    scopus 로고
    • Oxandrolone for the treatment of bone marrow failure in Fanconi anemia
    • Rose SR, Kim MO, Korbee L et al. Oxandrolone for the treatment of bone marrow failure in Fanconi anemia. Pediatr Blood Cancer 2014: 61: 11-19.
    • (2014) Pediatr Blood Cancer , vol.61 , pp. 11-19
    • Rose, S.R.1    Kim, M.O.2    Korbee, L.3
  • 71
    • 73949143725 scopus 로고    scopus 로고
    • Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics
    • Cioc AM, Wagner JE, MacMillan ML, DeFor T, Hirsch B. Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics. Am J Clin Pathol 2010: 133: 92-100.
    • (2010) Am J Clin Pathol , vol.133 , pp. 92-100
    • Cioc, A.M.1    Wagner, J.E.2    MacMillan, M.L.3    DeFor, T.4    Hirsch, B.5
  • 72
    • 33947175473 scopus 로고    scopus 로고
    • Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption
    • Meyer S, Fergusson WD, Whetton AD et al. Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes Chromosomes Cancer 2007: 46: 359-372.
    • (2007) Genes Chromosomes Cancer , vol.46 , pp. 359-372
    • Meyer, S.1    Fergusson, W.D.2    Whetton, A.D.3
  • 73
    • 79954595653 scopus 로고    scopus 로고
    • Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions
    • Quentin S, Cuccuini W, Ceccaldi R 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-e170.
    • (2011) Blood , vol.117 , pp. e161-e170
    • Quentin, S.1    Cuccuini, W.2    Ceccaldi, R.3
  • 74
    • 0038603848 scopus 로고    scopus 로고
    • Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor
    • Tonnies H, Huber S, Kuhl JS, Gerlach A, Ebell W, Neitzel H. 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.
    • (2003) Blood , vol.101 , pp. 3872-3874
    • Tonnies, H.1    Huber, S.2    Kuhl, J.S.3    Gerlach, A.4    Ebell, W.5    Neitzel, H.6
  • 75
    • 77949392920 scopus 로고    scopus 로고
    • Haematopoeitic cell transplantation for Fanconi anaemia - when and how?
    • MacMillan ML, Wagner JE. Haematopoeitic cell transplantation for Fanconi anaemia - when and how? Br J Haematol 2010: 149: 14-21.
    • (2010) Br J Haematol , vol.149 , pp. 14-21
    • MacMillan, M.L.1    Wagner, J.E.2
  • 76
    • 84884540764 scopus 로고    scopus 로고
    • Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia
    • Ayas M, Saber W, Davies SM et al. Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia. J Clin Oncol 2013: 31: 1669-1676.
    • (2013) J Clin Oncol , vol.31 , pp. 1669-1676
    • Ayas, M.1    Saber, W.2    Davies, S.M.3
  • 77
    • 33847349880 scopus 로고    scopus 로고
    • Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia
    • Wagner JE, Eapen M, MacMillan ML et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood 2007: 109: 2256-2262.
    • (2007) Blood , vol.109 , pp. 2256-2262
    • Wagner, J.E.1    Eapen, M.2    MacMillan, M.L.3
  • 78
    • 84891061185 scopus 로고    scopus 로고
    • Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience
    • Peffault de Latour R, Porcher R, Dalle JH et al. Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience. Blood 2013: 122: 4279-4286.
    • (2013) Blood , vol.122 , pp. 4279-4286
    • Peffault de Latour, R.1    Porcher, R.2    Dalle, J.H.3
  • 80
    • 84896737760 scopus 로고    scopus 로고
    • Ocular manifestations and visual functions in patients with Fanconi anaemia
    • Tornquist AL, Martin L, Winiarski J, Fahnehjelm KT. Ocular manifestations and visual functions in patients with Fanconi anaemia. Acta Ophthalmol 2014: 92: 171-178.
    • (2014) Acta Ophthalmol , vol.92 , pp. 171-178
    • Tornquist, A.L.1    Martin, L.2    Winiarski, J.3    Fahnehjelm, K.T.4
  • 81
    • 84864934552 scopus 로고    scopus 로고
    • Endocrine phenotype of children and adults with Fanconi anemia
    • Rose SR, Myers KC, Rutter MM et al. Endocrine phenotype of children and adults with Fanconi anemia. Pediatr Blood Cancer 2012: 59: 690-696.
    • (2012) Pediatr Blood Cancer , vol.59 , pp. 690-696
    • Rose, S.R.1    Myers, K.C.2    Rutter, M.M.3
  • 86
    • 34248198839 scopus 로고    scopus 로고
    • Chemotherapy for myeloid malignancy in children with Fanconi anemia
    • Mehta PA, Ileri T, Harris RE et al. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer 2007: 48: 668-672.
    • (2007) Pediatr Blood Cancer , vol.48 , pp. 668-672
    • Mehta, P.A.1    Ileri, T.2    Harris, R.E.3
  • 88
    • 77954339095 scopus 로고    scopus 로고
    • Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
    • Alter BP, Giri N, Savage SA et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010: 150: 179-188.
    • (2010) Br J Haematol , vol.150 , pp. 179-188
    • Alter, B.P.1    Giri, N.2    Savage, S.A.3
  • 89
    • 57649129523 scopus 로고    scopus 로고
    • Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation
    • Masserot C, Peffault de Latour R, Rocha V et al. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer 2008: 113: 3315-3322.
    • (2008) Cancer , vol.113 , pp. 3315-3322
    • Masserot, C.1    Peffault de Latour, R.2    Rocha, V.3
  • 90
    • 56749181183 scopus 로고    scopus 로고
    • Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients
    • van Zeeburg HJ, Snijders PJ, Wu T et al. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 2008: 100: 1649-1653.
    • (2008) J Natl Cancer Inst , vol.100 , pp. 1649-1653
    • van Zeeburg, H.J.1    Snijders, P.J.2    Wu, T.3
  • 92
    • 84898919264 scopus 로고    scopus 로고
    • Mycoplasma salivarium as a dominant coloniser of Fanconi anaemia associated oral carcinoma
    • Henrich B, Rumming M, Sczyrba A et al. Mycoplasma salivarium as a dominant coloniser of Fanconi anaemia associated oral carcinoma. PLoS One 2014: 9: e92297.
    • (2014) PLoS One , vol.9 , pp. e92297
    • Henrich, B.1    Rumming, M.2    Sczyrba, A.3
  • 93
    • 84921425029 scopus 로고    scopus 로고
    • Detection of early esophageal cancer and cervical lymph node metastases by (18)F-FDG PET/CT in a patient with fanconi anemia
    • Ichikawa T, Hashimoto J, Yabe M, Kikuchi T, Imai Y. Detection of early esophageal cancer and cervical lymph node metastases by (18)F-FDG PET/CT in a patient with fanconi anemia. Clin Nucl Med 2014: 39: 459-461.
    • (2014) Clin Nucl Med , vol.39 , pp. 459-461
    • Ichikawa, T.1    Hashimoto, J.2    Yabe, M.3    Kikuchi, T.4    Imai, Y.5
  • 94
    • 80053082067 scopus 로고    scopus 로고
    • Postoperative clinical radiosens itivity in patients with fanconi anemia and head and neck squamous cell carcinoma
    • Birkeland AC, Auerbach AD, Sanborn E et al. Postoperative clinical radiosens itivity in patients with fanconi anemia and head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg 2011: 137: 930-934.
    • (2011) Arch Otolaryngol Head Neck Surg , vol.137 , pp. 930-934
    • Birkeland, A.C.1    Auerbach, A.D.2    Sanborn, E.3
  • 95
    • 84864281572 scopus 로고    scopus 로고
    • Fatal course of tonsillar squamous cell carcinoma associated with Fanconi anaemia: a mini review
    • Spanier G, Pohl F, Giese T, Meier JK, Koelbl O, Reichert TE. Fatal course of tonsillar squamous cell carcinoma associated with Fanconi anaemia: a mini review. J Craniomaxillofac Surg 2012: 40: 510-515.
    • (2012) J Craniomaxillofac Surg , vol.40 , pp. 510-515
    • Spanier, G.1    Pohl, F.2    Giese, T.3    Meier, J.K.4    Koelbl, O.5    Reichert, T.E.6
  • 96
    • 77957771805 scopus 로고    scopus 로고
    • Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients
    • Nabhan SK, Bitencourt MA, Duval M et al. Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients. Haematologica 2010: 95: 1783-1787.
    • (2010) Haematologica , vol.95 , pp. 1783-1787
    • Nabhan, S.K.1    Bitencourt, M.A.2    Duval, M.3
  • 97
    • 77950916280 scopus 로고    scopus 로고
    • Vulvar squamous cell carcinoma associated with Fanconi's anemia
    • Mousavi A, Abbasi F, Abadi AG, Hashemi FA. Vulvar squamous cell carcinoma associated with Fanconi's anemia. Int J Hematol 2010: 91: 498-500.
    • (2010) Int J Hematol , vol.91 , pp. 498-500
    • Mousavi, A.1    Abbasi, F.2    Abadi, A.G.3    Hashemi, F.A.4
  • 99
    • 84856920873 scopus 로고    scopus 로고
    • Gene therapy for Fanconi anemia: one step closer to the clinic
    • Tolar J, Becker PS, Clapp DW et al. Gene therapy for Fanconi anemia: one step closer to the clinic. Hum Gene Ther 2012: 23: 141-144.
    • (2012) Hum Gene Ther , vol.23 , pp. 141-144
    • Tolar, J.1    Becker, P.S.2    Clapp, D.W.3
  • 100
    • 77951961355 scopus 로고    scopus 로고
    • Development of lentiviral vectors with optimized transcriptional activity for the gene therapy of patients with Fanconi anemia
    • Gonzalez-Murillo A, Lozano ML, Alvarez L et al. Development of lentiviral vectors with optimized transcriptional activity for the gene therapy of patients with Fanconi anemia. Hum Gene Ther 2010: 21: 623-630.
    • (2010) Hum Gene Ther , vol.21 , pp. 623-630
    • Gonzalez-Murillo, A.1    Lozano, M.L.2    Alvarez, L.3
  • 101
    • 84901791385 scopus 로고    scopus 로고
    • Targeted gene therapy and cell reprogramming in Fanconi anemia
    • Rio P, Banos R, Lombardo A et al. Targeted gene therapy and cell reprogramming in Fanconi anemia. EMBO Mol Med 2014: 6: 835-848.
    • (2014) EMBO Mol Med , vol.6 , pp. 835-848
    • Rio, P.1    Banos, R.2    Lombardo, A.3
  • 102
    • 67650500593 scopus 로고    scopus 로고
    • The genetic and molecular basis of Fanconi anemia
    • de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009: 668: 11-19.
    • (2009) Mutat Res , vol.668 , pp. 11-19
    • de Winter, J.P.1    Joenje, H.2


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