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BRCA2: a cause of Li–Fraumeni-like syndrome
  1. D G Evans1,
  2. C L Wu1,
  3. J M Birch2
  1. 1
    Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester, UK
  2. 2
    CR-UK Paediatric and Familial Cancer Research Group, Royal Manchester Children’s Hospital, Manchester, UK
  1. Professor D G R Evans, University Department of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Hathersage Road, Manchester, M13 0JH, UK; gareth.evans{at}cmmc.nhs.uk

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In response to a previous article outlining the search for other genes causing Li–Fraumeni syndrome (LFS),1 we have some evidence to suggest that BRCA2 may in some circumstances cause a Li–Fraumeni-like (LFL) pattern. Extensive analysis of classical LFS families has shown 70–75% with complete gene sequencing have identifiable mutations.13 A lower, but nevertheless substantial, proportion (30–40%) of families fulfilling criteria for LFL syndrome (box 1)2 also carry TP53 mutations. A recent paper has also suggested that BRCA2 may cause a fraction of breast sarcoma families.4 We have re-investigated an extensive LFL family (family 80) in whom we previously excluded TP53 by sequencing of all exons and by linkage5 and identified an exon 14–16 deletion in BRCA2.

Box 1

Li–Fraumeni syndrome (LFS) criteria
  1. Proband with any bone or soft tissue sarcoma, diagnosed under the age of 45 years

  2. one first degree relative with cancer under 45 years of age

  3. and one first or second degree relative in the same lineage, with cancer under 45 or sarcoma diagnosed at any age.

Li–Fraumeni-like syndrome (LFL) criteria
  1. Proband with any childhood cancer or sarcoma, …

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