title: Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults.
abstract: Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects.
authors.affiliation: Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK.|Manchester Academic Health Science Centre, Manchester, UK.
authors.forename: M
authors.initials: M
authors.lastname: Schneider
authors.affiliation: Manchester Academic Health Science Centre, Manchester, UK.|Department of Genetic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
authors.forename: K
authors.initials: K
authors.lastname: Chandler
authors.affiliation: Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: M
authors.initials: M
authors.lastname: Tischkowitz
authors.affiliation: Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK.|Manchester Academic Health Science Centre, Manchester, UK.|Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester, UK.|Department of Paediatric and Adolescent Oncology, Young Oncology Unit, The Christie NHS Foundation Trust, Manchester, UK.
authors.forename: S
authors.initials: S
authors.lastname: Meyer
mesh_terms: D000328:Adult; D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis; D019468:Disease Management; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D059647:Gene-Environment Interaction; D006801:Humans; D008297:Male; D009369:Neoplasms / Q000209:etiology / Q000235:genetics*; D010641:Phenotype
keywords: Fanconi anaemia; bone marrow failure; cancer; congenital abnormalities