Molecular and in silico analysis of BRCA1 and BRCA2 variants
β Scribed by Stefania Tommasi; Brunella Pilato; Rosamaria Pinto; Alessandro Monaco; Michele Bruno; Marco Campana; Maria Digennaro; Francesco Schittulli; Rosanna Lacalamita; Angelo Paradiso
- Book ID
- 113809191
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 651 KB
- Volume
- 644
- Category
- Article
- ISSN
- 0027-5107
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Variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes potentially affecting coding sequence as well as normal splicing activity have confounded predisposition testing in breast cancer. Here, we apply information theory to analyze BRCA1/2 mRNA splicing mutations categorized as VUS. Th