TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study
Copyright policy )TOPBP1 missense variant Arg309Cys and breast cancer in a German hospital-based case-control study
Abstract 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.
- Hannover Medical School Germany
DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Breast Neoplasms, Pharmacology, Toxicology and Pharmaceutics(all), Germany, Humans, Genetic Predisposition to Disease, Genetic Testing, Codon, Aged, Medicine(all), Base Sequence, Biochemistry, Genetics and Molecular Biology(all), Brief Report, Nuclear Proteins, Middle Aged, Hospitals, DNA-Binding Proteins, Amino Acid Substitution, Case-Control Studies, Female, Carrier Proteins
DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Breast Neoplasms, Pharmacology, Toxicology and Pharmaceutics(all), Germany, Humans, Genetic Predisposition to Disease, Genetic Testing, Codon, Aged, Medicine(all), Base Sequence, Biochemistry, Genetics and Molecular Biology(all), Brief Report, Nuclear Proteins, Middle Aged, Hospitals, DNA-Binding Proteins, Amino Acid Substitution, Case-Control Studies, Female, Carrier Proteins
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