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The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene
  1. W Hofmann1,
  2. D Horn1,2,
  3. C Hüttner3,
  4. E Classen1,
  5. S Scherneck1
  1. 1Department of Tumour Genetics, Max Delbrück Centre for Molecular Medicine, Berlin Germany
  2. 2Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany
  3. 3Department of Gynaecology and Obstetrics, Charité, Humboldt University, Berlin, Germany
  1. Correspondence to:
 Dr W Hofmann, Department of Tumour Genetics, Max Delbrück Centre for Molecular Medicine, Robert-Rossle-Strasse 10, 13092 Berlin, Germany;
 whofmann{at}mdc-berlin.de

https://doi.org/10.1136/jmg.40.3.e23

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    Since the identification of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, a large number of different germline mutations in both genes have been found.1,2 The BRCA1/2 germline mutations reported to date comprise a broad spectrum of sequence variants, mainly frameshift and nonsense mutations that result in truncated proteins.3 A minor proportion of the documented sequence variants are the result of mutations in sites relevant for correct splicing of the pre-mRNA.

    METHODS AND RESULTS

    As a participating centre in the German Consortium for Hereditary Breast and Ovarian Cancer in Germany, we have screened families with a strong history of breast and/or ovarian cancer for mutations in BRCA1 and BRCA2 by complete sequencing of both genes.4 Recently, we detected a mutation at an exon-intron boundary in the BRCA2 gene of a young woman (B538/300) who was diagnosed with breast cancer at the age of 32. Histological examination of resected breast tissue showed ductal carcinoma (grade I). No other breast or ovarian cancers have been observed in her family. In particular, sequence analysis of this patient showed a G to A transition at position 8204 of exon 17 of BRCA2 …

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