Article
Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk.
Breast cancer research and treatment - 1 Nov 2009
Yang Rongxi, Chen Bowang, Hemminki Kari, Wappenschmidt Barbara, Engel Christoph, Sutter Christian, Ditsch Nina, Weber Bernhard H F, Niederacher Dieter, Arnold Norbert, Meindl Alfons, Bartram Claus R, Schmutzler Rita K, Burwinkel Barbara
Abstract excerpt
Mutations in BRCA1 and BRCA2 are associated with increased breast cancer risk. While numerous non-synonymous SNPs in BRCA1/2 have been investigated for breast cancer risk, the impact of synonymous SNPs has not been studied so far. Recently, it has been reported that synonymous SNPs leading to an aberration from the preferred codon-usage can have functional effects and consequently be associated with disease. This...
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