LETTER TO JMG

¹ Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
² Section of Pediatrics, Institute of Cancer Research, Sutton, Surrey, UK
³ Division of Pediatric Hematology and Oncology, University Children’s Hospital, Inselspital, CH-3010 Bern, Switzerland

Correspondence to:
Correspondence to:
Dr Nazneen Rahman
Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK; nazneen.rahman@icr.ac.uk

Abbreviations: FA, Fanconi anaemia; WT, Wilms tumour

Keywords: BRCA2; familial Wilms tumour; Fanconi anaemia; medulloblastoma

Wilms tumour (WT) is an embryonal tumour of the kidney that occurs in 1 in 10 000 children. Familial clusters are rare and account for only 1–3% of cases. Mutations in WT1 account for a minority of WT families and two autosomal dominant familial WT predisposition genes have been mapped to chromosomes 17q21 and 19q13.^1–3 However, a considerable proportion of familial WT pedigrees are not attributable to any of these loci.⁴

Fanconi anaemia (FA, MIM 227650) is a rare autosomal recessive condition affecting 1 in 300 000 children. FA is characterised by variable congenital abnormalities, short stature, bone marrow failure, hypersensitivity to DNA crosslinking agents, and a predisposition to haematological malignancies such as acute myeloid leukaemia in childhood.⁵ FA is heterogeneous and consists of at least 11 complementation groups, A, B, C, D1, D2, E, F, G, I, J, and L.^6–8 Eight FA genes have been cloned and at . . . [Full text of this article]

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