Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

doi:10.1111/cge.12517

Review

. 2015 Jul;88(1):13-24.

doi: 10.1111/cge.12517. Epub 2014 Nov 10.

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

M Schneider^{1

2}, K Chandler^{2

3}, M Tischkowitz⁴, S Meyer^{1

2

5

6}

Affiliations

¹ Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK.
² Manchester Academic Health Science Centre, Manchester, UK.
³ Department of Genetic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
⁴ Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
⁵ Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester, UK.
⁶ Department of Paediatric and Adolescent Oncology, Young Oncology Unit, The Christie NHS Foundation Trust, Manchester, UK.

PMID: 25307146
DOI: 10.1111/cge.12517

Review

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

M Schneider et al. Clin Genet. 2015 Jul.

. 2015 Jul;88(1):13-24.

doi: 10.1111/cge.12517. Epub 2014 Nov 10.

Authors

M Schneider^{1

2}, K Chandler^{2

3}, M Tischkowitz⁴, S Meyer^{1

2

5

6}

Affiliations

¹ Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK.
² Manchester Academic Health Science Centre, Manchester, UK.
³ Department of Genetic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
⁴ Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
⁵ Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester, UK.
⁶ Department of Paediatric and Adolescent Oncology, Young Oncology Unit, The Christie NHS Foundation Trust, Manchester, UK.

PMID: 25307146
DOI: 10.1111/cge.12517

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.

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Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

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Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

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