50 research outputs found

    AD51B in Familial Breast Cancer

    Get PDF
    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

    The use of electrolyte redox potential to monitor the Ce(IV)/Ce(III) couple

    No full text
    Mathematical modelling of the oxidation reduction redox potential (ORP) of an electrolyte has been carried out for a batch system comprising an electrochemical reactor and an electrolyte circuit containing a redox couple. The ORP can be useful to monitor the environmental impact of chemical species in solution that represent a risk to the environment. Considerations of four fundamental equations, namely, the Nernst equation, a mass balance, Faraday's laws of electrolysis and a first order kinetic equation, leads to an expression for the electrolyte redox potential as a function of the batch time, the electrical charge and the redox concentration. Such an expression facilitates graphical plots which can be used to estimate kinetic parameters, current efficiency and the relative redox concentration. The Ce(IV)/Ce(III) system has been chosen as a model reaction for electrolyte redox potential measurement in a batch recycle system consisting of a pumped flow through a divided FM01-LC parallel plate electrochemical reactor (64 cm2 projected electrode area) and a well mixed tank (3,600 cm3). The differences between experimental and model predictions are discussed
    corecore