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TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study

Magda A Blaut1, Natalia V Bogdanova12, Michael Bremer2, Johann H Karstens2, Peter Hillemanns1 and Thilo Dörk1*

Author Affiliations

1 Clinics of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-Str. 1, D-30625 Hannover, Germany

2 Clinics of Radiation Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, D-30625 Hannover, Germany

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Journal of Negative Results in BioMedicine 2010, 9:9  doi:10.1186/1477-5751-9-9

Published: 25 November 2010


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 population controls (OR 0.89, 95%CI 0.69-1.15; p = 0.4). Arg309Cys carriers were not enriched among patients with a family history of breast cancer (OR = 0.87, 95%CI 0.53-1.43, p = 0.6) and were slightly underrepresented in patients with bilateral disease (OR = 0.49, 95%CI = 0.24-0.99; p = 0.047). In the latter group, the mean age at diagnosis was 62 years in carriers and 54 years in non-carriers (p = 0.004). We conclude that there is no evidence for the TOPBP1*Arg309Cys variant to confer an increased risk for breast cancer in the German population.