## Abstract Mutations in __BRCA1__ and __BRCA2__ genes confer a high risk of breast and ovarian cancer. As such, their identification is essential to reduce the risk of disease in healthy carriers, as well as in carriers who have already developed the disease because they are at increased risk for
Identification of specific BRCA1 and BRCA2 variants by DHPLC
β Scribed by Eva Gross; Norbert Arnold; Katharina Pfeifer; Katrin Bandick; Marion Kiechle
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 286 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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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
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Current evidence suggests that the genetic risk of breast cancer may be caused primarily by rare variants. However, while classification of protein-truncating mutations as deleterious is relatively straightforward, distinguishing as deleterious or neutral the large number of rare missense variants i
## Abstract The subcellular location and function of many proteins are regulated by nuclearβcytoplasmic shuttling. BRCA1 and BARD1 provide an interesting model system for understanding the influence of protein dimerization on nuclear transport and localization. These proteins function predominantly