HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Evans, D G Articles by Birch, J M Search for Related Content PubMed PubMed Citation Articles by Evans, D G Articles by Birch, J M Pubmed/NCBI databases Gene GEO Profiles HomoloGene UniGene Genetics Home Reference

BRCA2: a cause of Li–Fraumeni-like syndrome

¹ Academic Unit of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester, UK
² CR-UK Paediatric and Familial Cancer Research Group, Royal Manchester Children’s Hospital, Manchester, UK

Correspondence to:
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@cmmc.nhs.uk]

The first 150 words of the full text of this article appear below.

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.^1–3 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 Proband with any bone or soft tissue sarcoma, diagnosed under the age of 45 years one first degree relative with cancer under 45 years of age and one first or second degree . . . [Full text of this article]