Article
TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study.
Journal of negative results in biomedicine - 25 Nov 2010
Blaut Magda A, Bogdanova Natalia V, Bremer Michael, Karstens Johann H, Hillemanns Peter, Dörk Thilo
Abstract excerpt
The DNA double strand break repair gene TOPBP1 has been suggested as a breast cancer susceptibility gene and a missense variant Arg309Cys was observed at elevated frequency in familial breast cancer cases compared to healthy controls from Finland. We found the Arg309Cys allele at a 13% carrier frequency in a hospital-based series of 1064 German breast cancer patients and at a 14% carrier frequency in 1014...
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