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Fanconi Anemia - GeneReviews® - NCBI Bookshelf

  • Adamo A, Collis SJ, Adelman CA, Silva N, Horejsi Z, Ward JD, Martinez-Perez E, Boulton SJ, La Volpe A. Preventing nonhomologous end joining suppresses DNA repair defects of Fanconi anemia. Mol Cell. 2010;39:25–35. [

    PubMed: 20598602

    ]

  • Alter BP. The association between FANCD1/BRCA2 mutations and leukaemia. Br J Haematol. 2006;133:446–8. [

    PubMed: 16643458

    ]

  • Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010;150:179–88. [

    PMC free article: PMC3125983

    ] [

    PubMed: 20507306

    ]

  • Auerbach AD, Greenbaum J, Pujara K, Batish SD, Bitencourt MA, Kokemohr I, Schneider H, Lobitzc S, Pasquini R, Giampietro PF, Hanenberg H, Levran O, et al. Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. Hum Mutat. 2003;21:158–68. [

    PubMed: 12552564

    ]

  • Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, Henry R, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res. 2007;67:9591–6. [

    PMC free article: PMC3622247

    ] [

    PubMed: 17909071

    ]

  • Bonfim C, Ribeiro L, Nichele S, Loth G, Bitencourt M, Koliski A, Kuwahara C, Fabro AL, Pereira NF, Pilonetto D, Thakar M, Kiem HP, Page K, Fuchs EJ, Eapen M, Pasquini R. Haploidentical bone marrow transplantation with post-transplant cyclophosphamide for children and adolescents with Fanconi anemia. Biol Blood Marrow Transplant. 2017;23:310–17. [

    PubMed: 27832981

    ]

  • Bonfim C, Ribeiro L, Nichele S, Loth G, Kuwahara C, Koliski A, Bitencourt M, Scherer F, Rodrigues L, Pilonetto D, Pasquini R. Excellent outcomes for Fanconi anemia patients undergoing hematopoietic stem cell transplantation (HSCT) without radiation: a single center experience on 103 patients. Biol Blood Marrow Transplant. 2015;21:S94.

  • Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica. 2018;103:417–26. [

    PMC free article: PMC5830397

    ] [

    PubMed: 29269525

    ]

  • Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DC, Sgroi DC, Lane WS, Haber DA, Livingston DM. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105:149–60. [

    PubMed: 11301010

    ]

  • Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood. 2011;117:3759–69. [

    PMC free article: PMC3083295

    ] [

    PubMed: 21273304

    ]

  • Chao MM, Kuehl JS, Strauss G, Hanenberg H, Schindler D, Neitzel H, Niemeyer C, Baumann I, von Bernuth H, Rascon J, Nagy M, Zimmermann M, Kratz CP, Ebell W. Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only. Ann Hematol. 2015;94:1311–8. [

    PubMed: 25862235

    ]

  • Chaudhury S, Auerbach AD, Kernan NA, Small TN, Prockop SE, Scaradavou A, Heller G, Wolden S, O'Reilly RJ, Boulad F. Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia. Br J Haematol. 2008;140:644–55. [

    PubMed: 18302713

    ]

  • Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei AR. Laghmani el H, Joenje H, McDonald N, de Winter JP, Wang W, West SC. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007;25:331–43. [

    PubMed: 17289582

    ]

  • Crossan GP, Patel KJ. The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA. J Pathol. 2012;226:326–37. [

    PubMed: 21956823

    ]

  • Deans AJ, West SC. FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia. Mol Cell. 2009;36:943–53. [

    PubMed: 20064461

    ]

  • Del Valle J, Rofes P, Moreno-Cabrera JM, Lopez-Doriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients. Cancers (Basel). 2020;12:829. [

    PMC free article: PMC7226125

    ] [

    PubMed: 32235514

    ]

  • Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Gräsl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M. Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. Eur J Hum Genet. 2000;8:861–8. [

    PubMed: 11093276

    ]

  • Ebens CL, DeFor TE, Tryon R, Wagner JE, MacMillan ML. Comparable outcomes after HLA-matched sibling and alternative donor hematopoietic cell transplantation for children with Fanconi anemia and severe aplastic anemia. Biol Blood Marrow Transplant. 2018;24:765–71. [

    PMC free article: PMC6915968

    ] [

    PubMed: 29203412

    ]

  • Ebens CL, MacMillan ML, Wagner JE. Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations. Expert Rev Hematol. 2017;10:81–97. [

    PMC free article: PMC6089510

    ] [

    PubMed: 27929686

    ]

  • Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG. Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. Blood. 2000;96:4064–70. [

    PubMed: 11110674

    ]

  • Faivre L, Portnoi MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A. 2005;137:55–8. [

    PubMed: 16015582

    ]

  • 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;95:1493–8. [

    PubMed: 10666230

    ]

  • Gandhi M, Rac MWF, McKinney J, et al. Radial ray malformation. Am J Obstet Gynecol. 2019;221:B16–18. [

    PubMed: 31787159

    ]

  • Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Mol Cell. 2001;7:249. [

    PubMed: 11239454

    ]

  • Giardino S, de Latour RP, Aljurf M, Eikema DJ, Bosman P, Bertrand Y, Tbakhi A, Holter W, Bornhäuser M, Rössig C, Burkhardt B, Zecca M, Afanasyev B, Michel G, Ganser A, Alseraihy A, Ayas M, Uckan-Cetinkaya D, Bruno B, Patrick K, Bader P, Itälä-Remes M, Rocha V, Jubert C, Diaz MA, Shaw PJ, Junior LGD, Locatelli F, Kröger N, Faraci M, Pierri F, Lanino E, Miano M, Risitano A, Robin M, Dufour C, et al. Outcome of patients with Fanconi anemia developing myelodysplasia and acute leukemia who received allogeneic hematopoietic stem cell transplantation: A retrospective analysis on behalf of EBMT group. Am J Hematol. 2020;95:809–16. [

    PubMed: 32267023

    ]

  • Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. Blood. 1997;90:105–10. [

    PubMed: 9207444

    ]

  • Giulino L, Guinan EC, Gillio AP, Drachtman RA, Teruya-Feldstein J, Boulad F. Sweet syndrome in patients with Fanconi anaemia: association with extracutaneous manifestations and progression of haematological disease. Br J Haematol. 2011;154:278–81. [

    PubMed: 21501135

    ]

  • Guardiola P, Socié G, Li X, Ribaud P, Devergie A, Espérou H, Richard P, Traineau R, Janin A, Gluckman E. Acute graft-versus-host disease in patients with Fanconi anemia or acquired aplastic anemia undergoing bone marrow transplantation from HLA-identical sibling donors: risk factors and influence on outcome. Blood. 2004;103:73–7. [

    PubMed: 12946993

    ]

  • Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, Schindler D, Hanenberg H, Schaal H. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs. American Journal of Human Genetics. 2010;87:480–93. [

    PMC free article: PMC2948791

    ] [

    PubMed: 20869034

    ]

  • Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD. Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood. Blood. 2004;103:2554–9. [

    PubMed: 14670928

    ]

  • Ho TV, Schärer OD. Translesion DNA synthesis polymerases in DNA interstrand crosslink repair. Environ Mol Mutagen. 2010;51:552–66. [

    PubMed: 20658647

    ]

  • Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297:606–9. [

    PubMed: 12065746

    ]

  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [

    PubMed: 28959963

    ]

  • Jung M, Ramanagoudr-Bhojappa R, van Twest S, Rosti RO, Murphy V, Tan W, Donovan FX, Lach FP, Kimble DC, Jiang CS, Vaughan R, Mehta PA, Pierri F, Dufour C, Auerbach AD, Deans AJ, Smogorzewska A, Chandrasekharappa SC. Association of clinical severity with FANCB variant type in Fanconi anemia. Blood. 2020;135:1588–1602. [

    PMC free article: PMC7193183

    ] [

    PubMed: 32106311

    ]

  • Kahraman S, Beyazyurek C, Yesilipek MA, Ozturk G, Ertem M, Anak S, Kansoy S, Aksoylar S, Kuşkonmaz B, Oniz H, Slavin S, Karakas Z, Tac HA, Gulum N, Ekmekci GC. Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Reprod Biomed Online. 2014;29:340–51. [

    PubMed: 25066893

    ]

  • Kato Y, Alavattam KG, Sin H-S, Meetei AR, Pang Q, Andreassen PR, Namekawa SH. FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis. Hum Mol Genet. 2015;24:5234–49. [

    PMC free article: PMC4550819

    ] [

    PubMed: 26123487

    ]

  • Knipscheer P, Räschle M, Smogorzewska A, Enoiu M, Ho TV, Schärer OD, Elledge SJ, Walter JC. The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science. 2009;326:1698–701. [

    PMC free article: PMC2909596

    ] [

    PubMed: 19965384

    ]

  • Kutler DI, Patel K, Auerbach A, Kennedy J, Lach F, Sanborn E, Cohen M, Kuhel W, Smogorzewska A. Natural history and management of Fanconi anemia patients with head and neck cancer: a 10-year follow-up. Laryngoscope. 2016;126:870–9. [

    PMC free article: PMC4803627

    ] [

    PubMed: 26484938

    ]

  • Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, Hanenberg H, Auerbach AD. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101:1249–56. [

    PubMed: 12393516

    ]

  • Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005;37:934–5. [

    PubMed: 16116423

    ]

  • Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005;37:931–3. [

    PubMed: 16116424

    ]

  • Ling C, Ishiai M, Ali AM, Medhurst AL, Neveling K, Kalb R, Yan Z, Xue Y, Oostra AB, Auerbach AD, Hoatlin ME, Schindler D, Joenje H, de Winter JP, Takata M, Meetei AR, Wang W. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. EMBO J. 2007;26:2104–14. [

    PMC free article: PMC1852792

    ] [

    PubMed: 17396147

    ]

  • Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, Andreassen PR, Cantor SB. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell. 2005;8:255–65. [

    PubMed: 16153896

    ]

  • MacMillan ML, DeFor TE, Young JA, Dusenbery KE, Blazar BR, Slungaard A, Zierhut H, Weisdorf DJ, Wagner JE. Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood. 2015;125:3798–804. [

    PMC free article: PMC4463740

    ] [

    PubMed: 25824692

    ]

  • Masserot C, Peffault de Latour R, Rocha V, Leblanc T, Rigolet A, Pascal F, Janin A, Soulier J, Gluckman E, Socié G. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer. 2008;113:3315–22. [

    PubMed: 18831513

    ]

  • McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST. X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations. Am J Med Genet A. 2011;155A:2370–80. [

    PubMed: 21910217

    ]

  • Meetei AR, Sechi S, Wallisch M, Yang D, Young MK, Joenje H, Hoatlin ME, Wang W. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol. 2003;23:3417–26. [

    PMC free article: PMC164758

    ] [

    PubMed: 12724401

    ]

  • Mehta PA, Davies SM, Leemhuis T, Myers K, Kernan NA, Prockop SE, Scaradavou A, O'Reilly RJ, Williams DA, Lehmann L, Guinan E, Margolis D, Baker KS, Lane A, Boulad F. Radiation-free, alternative donor HCT for Fanconi anemia patients: results from a prospective multi-institutional study. Blood. 2017;129:2308–15. [

    PMC free article: PMC5766838

    ] [

    PubMed: 28179273

    ]

  • Mehta PA, Harris RE, Davies SM, Kim MO, Mueller R, Lampkin B, Mo J, Myers K, Smolarek TA. Numerical chromosomal changes and risk of development of myelodysplastic syndrome—acute myeloid leukemia in patients with Fanconi anemia. Cancer Genet Cytogenet. 2010;203:180–6. [

    PubMed: 21156231

    ]

  • Mehta PA, Ileri T, Harris RE, Williams DA, Mo J, Smolarek T, Auerbach AD, Kelly P, Davies SM. Chemotherapy for myeloid malignancy in children with Fanconi anemia. Pediatr Blood Cancer. 2007;48:668–72. [

    PubMed: 16609946

    ]

  • Mitchell R, Wagner JE, Hirsch B. Hematopoietic cell transplantation for acute leukaemia and advances myelodysplastic syndrome in Fanconi anemia. Br J Haematol. 2014;164:384–95. [

    PMC free article: PMC4060801

    ] [

    PubMed: 24172081

    ]

  • Morris LG, Sikora AG, Patel SG, Hayes RB, Ganly I. Second primary cancers after an index head and neck cancer: subsite-specific trends in the era of human papillomavirus-associated oropharyngeal cancer. J Clin Oncol. 2011;29:739–46. [

    PMC free article: PMC3056657

    ] [

    PubMed: 21189382

    ]

  • Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA. The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. Pediatr Blood Cancer. 2012;58:462–5. [

    PubMed: 21548014

    ]

  • Nabhan SK, Bitencourt MA, Duval M, Abecasis M, Dufour C, Boudjedir K, Rocha V, Socié G, Passweg J, Goi K, Sanders J, Snowden J, Yabe H, Pasquini R, Gluckman E., Aplastic Anaemia Working Party, EBMT. Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients. Haematologica. 2010;95:1783–7. [

    PMC free article: PMC2948106

    ] [

    PubMed: 20494929

    ]

  • Nakanishi K, Cavallo F, Perrouault L, Giovannangeli C, Moynahan ME, Barchi M, Brunet E, Jasin M. Homology-directed Fanconi anemia pathway cross-link repair is dependent on DNA replication. Nat Struct Mol Biol. 2011;18:500–3. [

    PMC free article: PMC3273992

    ] [

    PubMed: 21423196

    ]

  • Nalepa G, Clapp DW. Fanconi anaemia and cancer: an intricate relationship. Nature Reviews Cancer. 2018;18:168–85. [

    PubMed: 29376519

    ]

  • Neitzel H, Kühl JS, Gerlach A, Ebell W, Tönnies H. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: results and implications. In: Schindler D, Hoehn H, eds. Fanconi Anemia. a Paradigmatic Disease for the Understanding of Cancer and Aging. Monographs in Human Genetics. Vol 15. Basel: Karger. 2007:79-94.

  • Paustian L, Chao MM, Hanenberg H, Schindler D, Neitzel H, Kratz CP, Ebell W. Androgen therapy in Fanconi anemia: a retrospective analysis of 30 years in Germany. Pediatr Hematol Oncol. 2016;33:5–12. [

    PubMed: 26900943

    ]

  • Petryk A, Shaker RK, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR. Endocrine disorders in Fanconi Anemia: Recommendations from Screening and Treatment. J Clin Endocrinol Metab. 2015;100:803–11. [

    PMC free article: PMC4333044

    ] [

    PubMed: 25575015

    ]

  • Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. Nat Genet. 2016;48:126–33. [

    PMC free article: PMC4731925

    ] [

    PubMed: 26656846

    ]

  • Rechitsky S, Kuliev A, San Ramon G, Tur-Kaspa I, Wang Y, Wang W, Wu X, Wang L, Leigh D, Cram DS. Single-molecule sequencing: A new approach for preimplantation testing and noninvasive prenatal diagnosis confirmation of fetal genotype. J Mol Diagn. 2020;22:220–7. [

    PubMed: 31751677

    ]

  • Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, Rahman N. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007;39:162–4. [

    PubMed: 17200671

    ]

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. [

    PMC free article: PMC4544753

    ] [

    PubMed: 25741868

    ]

  • Río P, Navarro S, Guenechea G, Sánchez-Domínguez R, Lamana ML, Yañez R, Casado JA, Mehta PA, Pujol MR, Surrallés J, Charrier S, Galy A, Segovia JC, Díaz de Heredia C, Sevilla J, Bueren JA. Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34(+) cells from Fanconi anemia patients. Blood. 2017;130:1535–42. [

    PubMed: 28801449

    ]

  • Rose SR, Kim MO, Korbee L, Wilson KA, Douglas Ris M, Eyal O, Sherafat-Kazemzadeh R, Bollepalli S, Harris R, Jeng MR, Williams DA, Smith FO. Oxandrolone for the treatment of bone marrow failure in Fanconi anemia. Pediatr Blood Cancer. 2014;61:11–9. [

    PubMed: 24019220

    ]

  • Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. Haematologica. 2008;93:511–7. [

    PubMed: 18322251

    ]

  • Rosenberg PS, Socié G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood. 2005;105:67–73. [

    PubMed: 15331448

    ]

  • Rosenberg PS, Tamary H, Alter BP. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. Am J Med Genet A. 2011;155A:1877–83. [

    PMC free article: PMC3140593

    ] [

    PubMed: 21739583

    ]

  • Scheckenbach K, Morgan M, Filger-Brillinger J, Sandmann M, Strimling B, Scheurlen W, Schindler D, Göbel U, Hanenberg H. Treatment of the bone marrow failure in Fanconi anemia patients with danazol. Blood Cells Mol Dis. 2012;48:128–31. [

    PubMed: 22178060

    ]

  • Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38:1239–41. [

    PubMed: 17033622

    ]

  • Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell. 2007;129:289–301. [

    PMC free article: PMC2175179

    ] [

    PubMed: 17412408

    ]

  • Song IY, Palle K, Gurkar A, Tateishi S, Kupfer GM, 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. [

    PMC free article: PMC2951227

    ] [

    PubMed: 20675655

    ]

  • 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;40:510–5. [

    PubMed: 21925890

    ]

  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139:1197–207. [

    PMC free article: PMC7497289

    ] [

    PubMed: 32596782

    ]

  • Strocchio L, Pagliara D, Algeri M, Li Pira G, Rossi F, Bertaina V, Leone G, Pinto RM, Andreani M, Agolini E, Girardi K, Gaspari S, Grapulin L, Del Bufalo F, Novelli A, Merli P, Locatelli F. HLA-haploidentical TCRalphabeta+/CD19+-depleted stem cell transplantation in children and young adults with Fanconi anemia. Blood Adv. 2021;5:1333–9. [

    PMC free article: PMC7948273

    ] [

    PubMed: 33656536

    ]

  • Talbot A, Peffault de Latour R, Raffoux E, Buchbinder N, Vigouroux S, Milpied N, Leblanc T, Soulier J, Michallet M, Socié G. Sequential treatment for allogeneic hematopoietic stem cell transplantation in Fanconi anemia with acute myeloid leukemia. Haematologica. 2014;99:e199–200. [

    PMC free article: PMC4181270

    ] [

    PubMed: 25085358

    ]

  • Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica. 2010;95:1300–7. [

    PMC free article: PMC2913078

    ] [

    PubMed: 20435624

    ]

  • Tan IB, Cutcutache I, Zang ZJ, Iqbal J, Yap SF, Hwang W, Lim WT, Teh BT, Rozen S, Tan EH, Tan P. Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing. J Clin Oncol. 2011;29:e591–4. [

    PubMed: 21519011

    ]

  • Taniguchi T, D'Andrea AD. Molecular pathogenesis of Fanconi anemia: recent progress. Blood. 2006;107:4223–33. [

    PubMed: 16493006

    ]

  • Tsui V, Crismani W. The Fanconi anemia pathway and fertility. Trends Genet. 2019;35:199–214. [

    PubMed: 30683429

    ]

  • Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. Blood. 2004;103:3226–9. [

    PubMed: 15070707

    ]

  • Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Hum Mol Genet. 2011;20:4395–410. [

    PMC free article: PMC3196888

    ] [

    PubMed: 21865299

    ]

  • Wilson JB, Blom E, Cunningham R, Xiao Y, Kupfer GM, Jones NJ. Several tetratricopeptide repeat (TPR) motifs of FANCG are required for assembly of the BRCA2/D1-D2-G-X3 complex, FANCD2 monoubiquitylation and phleomycin resistance. Mutat Res. 2010;689:12–20. [

    PMC free article: PMC2903733

    ] [

    PubMed: 20450923

    ]

  • Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006;22:719–29. [

    PubMed: 16793542

    ]

  • Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD. The Clinical variability of Fanconi Anemia (Type C) results from expression of an amino terminal truncated FAC polypeptide with partial activity. Blood. 1996;87:4424. [

    PubMed: 8639804

    ]

  • Zhang QS, Benedetti E, Deater M, Schubert K, Major A, Pelz C, Impey S, Marquez-Loza L, Rathbun RK, Kato S, Bagby GC, Grompe M. Oxymetholone therapy of fanconi anemia suppresses osteopontin transcription and induces hematopoietic stem cell cycling. Stem Cell Reports. 2015;4:90–102. [

    PMC free article: PMC4297866

    ] [

    PubMed: 25434823

    ]

  • Zheng K, Liu T, Zhao J, Meng P, Bian Y, Ni C, Wang H, Pan Y, Wu S, Jiang H, Jin G. Mutational landscape and potential therapeutic targets for sporadic pancreatic neuroendocrine tumors based on target next-generation sequencing. Exp Ther Med. 2021;21:415. [

    PMC free article: PMC7967861

    ] [

    PubMed: 33747156

    ]

  • Zhi G, Wilson JB, Chen X, Krause DS, Xiao Y, Jones NJ, Kupfer GM. 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. [

    PMC free article: PMC5912675

    ] [

    PubMed: 19861535

    ]

  • Zubicaray J, Pagliara D, Sevilla J, Eikema DJ, Bosman P, Ayas M, Zecca M, Yesilipek A, Kansoy S, Renard C, Dalle JH, Campos A, Faraci M, Kupesiz A, Smiers FJW, Velardi A, Abecasis M, Corti P, Fagioli F, González Muñiz S, Kriván G, Dufour C, Risitano A, Corbacioglu S, Peffault de Latour R. Haplo-identical or mismatched unrelated donor hematopoietic cell transplantation for Fanconi anemia: Results from the Severe Aplastic Anemia Working Party of the EBMT. Am J Hematol. 2021;96:571–9. [

    PubMed: 33606297

    ]


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