A number of methods are used for mutational analysis of BRCA1, a large multi-exon gene. A comparison was made of five methods to detect mutations generating premature stop codons that are predicted to result in synthesis of a truncated protein in BRCA1. These included four DNA-based methods: two-dim
Microelectronic DNA Assay for the Detection of BRCA1 Gene Mutations
โ Scribed by Hua Chen; Jie Han; Jun Li; Meyya Meyyappan
- Book ID
- 111574642
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 164 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1387-2176
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## Communicated by Riccardo Fodde BRCA1 mutation detection is expensive and has sensitivity limitations, which might at least partially be overcome by RNA-based sequencing. There are claims that RNA tests are unreliable due to differential splicing, exon skipping, or nonsense-mediated mRNA decay t
## Abstract In most families with multiple cases of breast and ovarian cancer, the cancer appears to be associated with germline alterations in __BRCA1__ or __BRCA2__. However, somatic mutations in __BRCA1__ and __BRCA2__ in sporadic breast and ovarian tumors are rare, even though loss of heterozyg