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Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families
  1. W Hofmann1,
  2. B Wappenschmidt2,
  3. S Berhane2,
  4. R Schmutzler2,
  5. S Scherneck1
  1. 1Department of Tumour Genetics, Max Delbrück Centre for Molecular Medicine, Robert-Rössle-Strasse 10, 13092 Berlin, Germany
  2. 2Department of Obstetrics and Gynaecology, University of Bonn Medical Centre, Siegmund-Freud-Strasse 25, 53105 Bonn, Germany
  1. Correspondence to:
 Dr W Hofmann, Department of Tumour Genetics, Max Delbrück Center for Molecular Medicine, Robert-Rössle-Strasse 10, 13092 Berlin, Germany;
 whofmann{at}mdc-berlin.de

https://doi.org/10.1136/jmg.39.7.e36

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    The breast and ovarian cancer susceptibility gene BRCA1 contains an unusually high density (41.5%) of Alu elements.1 The homology between these repetitive Alu sequences can promote ectopic or homotopic homologous recombination. Ectopic homologous recombination, such as that reported in the BRCA1 gene, leads to large genomic rearrangements, which subsequently may cause disease phenotypes. In the BRCA1 gene, a number of different Alu mediated rearrangements, ranging from 510 bp to 23.8 kb, have been found to date.2–13 Two of them, a 510 bp deletion of exon 22 (IVS21-36del510) and a 3835 bp deletion of exon 13 (IVS12-1643del3835), are founder mutations in Dutch breast cancer patients and represent 36% of all BRCA1 mutations in this population.7 An additional recurrent founder mutation, a 6 kb duplication of exon 13 (ins6kbEx13), was detected mainly in English speaking countries.9,14

    We tested German families with …

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