Article
The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.
Breast cancer research and treatment - 1 Feb 2010
Hansen Thomas V O, Steffensen Ane Y, Jønson Lars, Andersen Mette K, Ejlertsen Bent, Nielsen Finn C
Abstract excerpt
Germ-line mutations in BRCA2 predispose to breast and ovarian cancer. Mutations are widespread throughout the gene and include disease-causing mutations as frameshift, nonsense, splicing mutations and large genomic rearrangements. However a large number of mutations, including missense, silent and intron variants are of unknown significance. Here, we describe the functional characterization of a silent mutation...
Topics
- Adult
- Aged
- Breast Neoplasms
- Breast Neoplasms, Male
- Chromatography, High Pressure Liquid
- Exons
- Female
- Genes, BRCA2
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Mutation
- Ovarian Neoplasms
- Pedigree
- Reverse Transcriptase Polymerase Chain Reaction