Fanconi Anemia: A Paradigmatic Disease for the Understanding of Cancer and Aging
Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of ‘natural gene therapy’ and hematopoietic stem cell transplantation as the only curative approach in FA. The final chapters investigate evolutionary aspects of the FA genes with special emphasis on the avian genome and the involvement of FA genes in recombinational types of DNA repair. Physicians and researchers in the fields of pediatrics, hematology, cancer, genetics, DNA repair and aging will benefit from understanding this disease, which illustrates the complex network of genomic maintenance systems that protect us from cancer and premature aging.
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1 - 8: Why, What and How Can We Learn from a Rare Disease Like Fanconi Anemia?ByTraute Schroeder-KurthTraute Schroeder-KurthDepartment of Human Genetics, University of Würzburg, Würzburg, GermanySearch for other works by this author on:
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9 - 22: Fanconi Anemia: A Disease with Many FacesByR. Dietrich;R. DietrichaDeutsche Fanconi-Anämie-Hilfe e.V., Unna;Search for other works by this author on:E. VelleuerE. Velleuerb Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Düsseldorf, GermanySearch for other works by this author on:
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23 - 38: Milestones in Fanconi Anemia ResearchByM. Digweed;M. DigweedaInstitute of Human Genetics, Charité – Universitätsmedizin Berlin, Berlin,Search for other works by this author on:H. Hoehn;H. HoehnbDepartment of Human Genetics, University of Würzburg, Würzburg, GermanySearch for other works by this author on:K. SperlingK. SperlingaInstitute of Human Genetics, Charité – Universitätsmedizin Berlin, Berlin,Search for other works by this author on:
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39 - 58: Fanconi Anemia Genes: Structure, Mutations, and Genotype-Phenotype CorrelationsByK. Neveling;K. NevelingaDepartment of Human Genetics, andSearch for other works by this author on:S. Herterich;S. Herterichb Department of Clinical Chemistry and Pathobiochemistry, University of Würzburg, Würzburg, GermanySearch for other works by this author on:D. SchindlerD. SchindleraDepartment of Human Genetics, andSearch for other works by this author on:
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59 - 78: Cancer in Fanconi Anemia and Fanconi Anemia Genes in CancerByK. Neveling;K. NevelingDepartment of Human Genetics, University of Würzburg, Biocenter,Würzburg, GermanySearch for other works by this author on:R. Kalb;R. KalbDepartment of Human Genetics, University of Würzburg, Biocenter,Würzburg, GermanySearch for other works by this author on:D. SchindlerD. SchindlerDepartment of Human Genetics, University of Würzburg, Biocenter,Würzburg, GermanySearch for other works by this author on:
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79 - 94: Clonal Chromosomal Aberrations in Bone Marrow Cells of Fanconi Anemia Patients: Results and ImplicationsByH. Neitzel;H. NeitzelaInstitute of Human Genetics and theSearch for other works by this author on:J.-S. Kühl;J.-S. Kühlb Department of General Pediatrics, Bone Marrow Transplant Unit, Charité – Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:A. Gerlach;A. GerlachaInstitute of Human Genetics and theSearch for other works by this author on:W. Ebell;W. Ebellb Department of General Pediatrics, Bone Marrow Transplant Unit, Charité – Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:H. TönniesH. TönniesaInstitute of Human Genetics and theSearch for other works by this author on:
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95 - 109: Interphase FISH-Assay for the Detection of MDS- and AML-Associated Chromosomal Imbalances in Native Bone Marrow and Peripheral Blood CellsByH. Tönnies;H. TönniesInstitute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:S. Huber;S. HuberInstitute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:E. Volarikova;E. VolarikovaInstitute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:A. Gerlach;A. GerlachInstitute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:H. NeitzelH. NeitzelInstitute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, GermanySearch for other works by this author on:
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110 - 130: Applications of Cell Cycle Testing in Fanconi AnemiaByD. Schindler;D. SchindleraDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:R. Friedl;R. FriedlaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:I. Gavvovidis;I. GavvovidisaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:R. Kalb;R. KalbaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:K. Neveling;K. NevelingaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:Y. Linka;Y. Linkab Department of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich Heine University School of Medicine, Düsseldorf,Search for other works by this author on:H. Hanenberg;H. Hanenbergb Department of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich Heine University School of Medicine, Düsseldorf,Search for other works by this author on:M. Kubbies;M. Kubbiesc Roche Diagnostics, Department of Cell Analytics, Pharmaceutical Research Oncology, Penzberg, GermanySearch for other works by this author on:H. HoehnH. HoehnaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:
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131 - 148: Prenatal Diagnosis of Fanconi Anemia: Functional and Molecular TestingByA. Bechtold;A. BechtoldaDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:R. Kalb;R. KalbaDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:K. Neveling;K. NevelingaDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:R. Friedl;R. FriedlaDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:B. Gottwald;B. GottwaldaDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:S. Herterich;S. Herterichb Department of Clinical Chemistry and Pathobiochemistry, University of Würzburg, Würzburg,Search for other works by this author on:M. Schmugge Liner;M. Schmugge Linerc Department of Pediatrics, University of Zürich, Zürich, Switzerland;Search for other works by this author on:C. Heilmann;C. Heilmannd Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark;Search for other works by this author on:H. Hanenberg;H. Hanenberge Department of Clinical Oncology and Hematology, University Children’s Hospital, Heinrich-Heine-University, Düsseldorf, GermanySearch for other works by this author on:D. SchindlerD. SchindleraDepartment of Human Genetics, University of Würzburg,Search for other works by this author on:
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149 - 172: Revertant Mosaicism in Fanconi Anemia: Natural Gene Therapy at WorkByH. Hoehn;H. HoehnaDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:R. Kalb;R. KalbaDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:K. Neveling;K. NevelingaDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:R. Friedl;R. FriedlaDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:A. Bechtold;A. BechtoldaDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:S. Herterich;S. Herterichb Department of Clinical Chemistry and Pathobiochemistry, University of Würzburg, Würzburg, Germany;Search for other works by this author on:Y. Sun;Y. Sunc Key Laboratory of Molecular and Medical Genetics, Nanjing Medical University, Nanjing, P.R. China;Search for other works by this author on:B. Gruhn;B. Gruhnd Department of Pediatrics, University of Jena, Jena,Search for other works by this author on:H. Hanenberg;H. HanenbergeDepartment of Pediatric Hematology and Oncology, Children’s Hospital, University of Düsseldorf, Düsseldorf, GermanySearch for other works by this author on:D. SchindlerD. SchindleraDepartment of Human Genetics, Biocenter, University of Würzburg,Search for other works by this author on:
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173 - 182: Stem Cell Transplantation in Fanconi Anemia – Recent Advances with Alternative DonorsByM. Eyrich;M. EyrichPediatric Stem Cell Transplant Program, Children’s Hospital,University of Würzburg, Würzburg, GermanySearch for other works by this author on:B. Winkler;B. WinklerPediatric Stem Cell Transplant Program, Children’s Hospital,University of Würzburg, Würzburg, GermanySearch for other works by this author on:P.G. SchlegelP.G. SchlegelPediatric Stem Cell Transplant Program, Children’s Hospital,University of Würzburg, Würzburg, GermanySearch for other works by this author on:
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183 - 199: Fanconi Anemia Genes in Vertebrates: Evolutionary Conservation, Sex-Linkage, and Embryonic Expression of FANCC and FANCG in Avian CellsByI. Nanda;I. NandaaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:A. Buwe;A. BuweaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:A. Wizenman;A. Wizenmanb GSF- National Research Center for Environment and Health, Institute for Stem Cell Research, Neuherberg/Munich, Germany;Search for other works by this author on:M. Takata;M. Takatac Department of Human Genetics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;Search for other works by this author on:T. Haaf;T. HaafdDepartment of Human Genetics, University of Mainz, Mainz,Search for other works by this author on:M. Schartl;M. Schartle Department of Physiological Chemistry I, University of Würzburg, Würzburg, GermanySearch for other works by this author on:M. SchmidM. SchmidaDepartment of Human Genetics, University of Würzburg, Würzburg,Search for other works by this author on:
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200 - 210: Studying Homologous Recombination in Fanconi AnemiaByI. Demuth;I. DemuthInstitut für Humangenetik, Charité Universitätsmedizin Berlin,Campus Virchow-Klinikum, Berlin, GermanySearch for other works by this author on:M. DigweedM. DigweedInstitut für Humangenetik, Charité Universitätsmedizin Berlin,Campus Virchow-Klinikum, Berlin, GermanySearch for other works by this author on:
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211 - 225: Functional Knock-Down of Human RAD51 for Testing the Fanconi Anemia-BRCA ConnectionByP. Rio;P. RioaDepartment of Pediatric Hematology, Oncology and Clinical Immunology, Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany;b Hematopoiesis and Gene Therapy Division, CIEMAT, Madrid, Spain;Search for other works by this author on:H. HanenbergH. HanenbergaDepartment of Pediatric Hematology, Oncology and Clinical Immunology, Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany;c Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine,Indianapolis, Ind., USASearch for other works by this author on: