Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark
β Scribed by Mads Thomassen; Anne-Marie Gerdes; Dorthe Cruger; Peter K.A. Jensen; Torben A. Kruse
- Book ID
- 113512892
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 157 KB
- Volume
- 168
- Category
- Article
- ISSN
- 0165-4608
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BRCA1 and BRCA2 mutations underlie a substantial proportion of all hereditary breast cancer. The mutational spectrum in these genes is very broad, with hundreds of different BRCA mutations reported worldwide. However, high frequency founder mutations make up a substantial fraction of all mutations i
The presence of genomic rearrangements of the BRCA1 gene in breast and/or ovarian cancer families has been intensively investigated in patients from various countries over the last years. A number of different rearrangements have been reported by several studies that clearly document the involvement