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Background Rare germline mutations in DNA repair genes are associated with prostate cancer (PCa) predisposition and prognosis. Objective To quantify the frequency of germline DNA repair gene mutations in UK PCa cases and controls, in order to more comprehensively evaluate the contribution of individual genes to overall PCa risk and likelihood of aggressive disease. Design, setting, and participants We sequenced 167 DNA repair and eight PCa candidate genes in a UK-based cohort of 1281 young-onset PCa cases (diagnosed at ≤60 yr) and 1160 selected controls. Outcome measurements and statistical analysis Gene-level SKAT-O and gene-set adaptive combination of p values (ADA) analyses were performed separately for cases versus controls, and aggressive (Gleason score ≥8, n = 201) versus nonaggressive (Gleason score ≤7, n = 1048) cases. Results and limitations We identified 233 unique protein truncating variants (PTVs) with minor allele frequency, Take Home Message This large sequencing study assessed the rate of inherited DNA repair gene mutations in prostate cancer (PCa) patients and in disease-free men. A total of 23 genes were found to be associated with PCa predisposition or the risk of aggressive disease. These findings have predictive and prognostic potential.

German universities built over the years highly specialized book collections for use by faculty and graduate students. The German term, “Seminarbibliothek,” is often applied to these types of collections, although examples can be found in universities across Europe. The purpose of this paper is to examine a similar type of collection using e-books in veterinary science and to compare this collection to the standard subject classified e-book collections. The study looks at how such a collection might be formed and defined and what possible effects this might have on the use of collections of this type.

Associations between single nucleotide polymorphisms (snps) at 5p15 and multiple cancer types have been reported. we have previously shown evidence for a strong association between prostate cancer (prca) risk and rs2242652 at 5p15, intronic in the telomerase reverse transcriptase (tert) gene that encodes tert. to comprehensively evaluate the association between genetic variation across this region and prca, we performed a fine-mapping analysis by genotyping 134 snps using a custom illumina iselect array or sequenom massarray iplex, followed by imputation of 1094 snps in 22 301 prca cases and 22 320 controls in the practical consortium. multiple stepwise logistic regression analysis identified four signals in the promoter or intronic regions of tert that independently associated with prca risk. gene expression analysis of normal prostate tissue showed evidence that snps within one of these regions also associated with tert expression, providing a potential mechanism for predisposition to disease. © The author 2013. Published by Oxford University Press.

Print books pose inherent difficulties for researchers who want to observe users’ natural in-book reading patterns. With e-books and logs of their use it is now possible to track several aspects of users’ interactions inside e-books, including the number and duration of their sessions with an e-book and the order in which pages are viewed. This chapter reports on a study of one-year of EBL user log data from Purdue University to identify different reading patterns or ways in which users navigate within different types of e-books—authored monographs vs. edited collections--and in e-books in different subject areas. The analysis of reading logs for e-books is still very much a new venture. From this perspective the results of this chapter are exploratory and descriptive, rather than conclusive, and as much about the evolution of workable methodologies as they are about the results of the analysis. Log analysis reveals nothing about users’ circumstances or intentions; however, in tandem with usability studies, and studies based on surveys, diaries, and interviews, it can contribute to a more objective understanding of users’ interactions with e-books.