https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20561 Wed 11 Apr 2018 15:36:46 AEST ]]> Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26195 Wed 11 Apr 2018 15:00:42 AEST ]]> Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28088 −6 to P = 7.7 × 10−5). Only one falls into a haplotype previously associated with other cancer types (rs7705526, in TERT intron 1), and this SNP has been shown to alter TERT promoter activity. One of the novel associations (rs13174814) maps to a second region in the TERT promoter and the other (rs62329728) is in the promoter region of CLPTM1L; neither are correlated with previously reported cancer-associated SNPs. Using TCGA RNASeq data, we found significantly increased expression of both TERT and CLPTM1L in endometrial cancer tissue compared with normal tissue (TERTP = 1.5 × 10−18, CLPTM1LP = 1.5 × 10−19). Our study thus reports a novel endometrial cancer risk locus and expands the spectrum of cancer types associated with genetic variation at 5p15, further highlighting the importance of this region for cancer susceptibility.]]> Wed 11 Apr 2018 09:49:25 AEST ]]> Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28231 Wed 01 Aug 2018 14:52:20 AEST ]]> Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20582 Sat 24 Mar 2018 07:55:36 AEDT ]]> Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26799 Sat 24 Mar 2018 07:36:26 AEDT ]]> Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30306 Sat 24 Mar 2018 07:31:48 AEDT ]]> Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:26934 KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31×10-6 in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. Conclusions: Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations.]]> Sat 24 Mar 2018 07:27:31 AEDT ]]>