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Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk

Yang, R. ; Chen, B. ; Hemminki, K. ; Wappenschmidt, B. ; Engel, C. ; Sutter, C. ; Ditsch, N. ; Weber, Bernhard H. F. ; Niederacher, D. ; Arnold, N. ; Meindl, A. ; Bartram, C. ; Schmutzler, R. ; Burwinkel, B.


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 ...


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