Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults
- PMID: 25307146
- DOI: 10.1111/cge.12517
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.
Keywords: Fanconi anaemia; bone marrow failure; cancer; congenital abnormalities.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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