/manager/Index ${session.getAttribute("locale")} 5 Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. /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 /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 /manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility /manager/Repository/uon:15053 Wed 11 Apr 2018 13:24:44 AEST ]]> Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk /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 /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 /manager/Repository/uon:20582 Sat 24 Mar 2018 07:55:36 AEDT ]]> Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis /manager/Repository/uon:5128 T and N2792S, 8375A>G) to be associated with an allele dose–dependent increase in risk of familial breast cancer in a German population. We extended the analysis of AKAP9 M463I, which is in strong linkage disequilibrium with AKAP9 N2792S, to 9523 breast cancer patients and 13 770 healthy control subjects from seven independent European and Australian breast cancer studies. All statistical tests were two-sided. The collaborative analysis confirmed the association of M463I with increased breast cancer risk. Among all breast cancer patients, the combined adjusted odds ratio (OR) of breast cancer for individuals homozygous for the rare allele TT (frequency = 0.19) compared with GG homozygotes was 1.17 (95% confidence interval [CI] = 1.08 to 1.27, P = .0003), and the OR for TT homozygotes plus GT heterozygotes compared with GG homozygotes was 1.10 (95% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% CI = 1.12 to 1.45, P = .0003) and 1.16 (95% CI = 1.06 to 1.27, P = .001).]]> Sat 24 Mar 2018 07:48:55 AEDT ]]> Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer /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 /manager/Repository/uon:30306 Sat 24 Mar 2018 07:31:48 AEDT ]]>