## Abstract About 4% of all __BRCA1__ and __BRCA2__ alterations reported to the Breast Information Core database are splice site variants. Only a limited number of them have been studied at the RNA level. By __BRCA1__ and __BRCA2__ mutation analysis of breast/ovarian cancer families, we identified
A Novel Insertional Mutation and Differentially Spliced mRNAs in the Human BRCA1 Gene
โ Scribed by Marc Munnes; Ines Zuther; Birgit Schmitz; Walter Doerfler
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 646 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1438-7506
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This study was designed to determine the significance of a single intronic base change (IVS5 -12 GโA) found in a family with a history of breast cancer. This change is predicted to form a cryptic splice site resulting in the addition of 11 nucleotides to the BRCA1 transcript. The BRCA1 gene of the r
BRCA1 is a tumour suppressor gene located on chromosome band 17q21. It is estimated that mutations in the BRCA1 gene account for approximately 45% of the breast cancer families and almost all of the breast/ovarian cancer families. We have used single strand conformation polymorphism analysis, direct