Journal
BREAST CANCER RESEARCH AND TREATMENT
Volume 119, Issue 3, Pages 547-550Publisher
SPRINGER
DOI: 10.1007/s10549-009-0359-4
Keywords
Breast cancer; BRCA2; Silent mutation; Splicing; Exon trapping; RT-PCR
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Funding
- Neye Foundation
- Danish Cancer Society
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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 (nucleotide 744 G -> A/c.516 G -> A, Lys172Lys) in exon 6 of BRCA2 in a Danish family with breast and ovarian cancer. Exon trapping analysis showed that the mutation results in skipping of exon 6 and/or both exon 5 and 6, which was verified by RT-PCR analysis on RNA isolated from whole blood of the affected patient. We therefore conclude that the BRCA2 silent mutation Lys172Lys is a disease-causing mutation.
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