Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults.
Schneider, M Chandler, K Tischkowitz, M Meyer, Stefan
Schneider, M
Chandler, K
Tischkowitz, M
Meyer, Stefan
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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.
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Date
2015-07
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Article
Citation
Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults. 2015, 88 (1):13-24 Clin Genet