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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:
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]
Received 18 May 2004
Revised version received 8 July 2004
Abbreviations: FA, Fanconi anaemia; WT, Wilms tumour
Keywords: BRCA2; familial Wilms tumour; Fanconi anaemia; medulloblastoma
| The first 150 words of the full text of this article appear below. |
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
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