/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 ]]> A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding /manager/Repository/uon:30271 Wed 11 Apr 2018 15:01:33 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 ]]> Genome-wide association study of endometrial cancer in E2C2 /manager/Repository/uon:20989 Wed 11 Apr 2018 11:20:08 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 ]]> Genome-wide association study identifies a possible susceptibility locus for endometrial cancer /manager/Repository/uon:17481 Sat 24 Mar 2018 08:04:10 AEDT ]]> Genome-wide association study identifies a common variant associated with risk of endometrial cancer /manager/Repository/uon:17125 −10) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes.]]> Sat 24 Mar 2018 08:02:31 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 ]]> Evidence of a causal association between insulinemia and endometrial cancer: a Mendelian randomization analysis /manager/Repository/uon:27532 Sat 24 Mar 2018 07:28:58 AEDT ]]> Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition /manager/Repository/uon:26944 0.05), but cases presented with an excess of rare germline deletions overlapping likely functional genomic regions including genes (P = 8 x 10-10), CpG islands (P = 1 x 10-7) and sno/miRNAs regions (P = 3 x 10-9). On average, at least one additional gene and two additional CpG islands were disrupted by rare deletions in cases compared to controls. The most pronounced difference was that over 30 sno/miRNAs were disrupted by rare deletions in cases for every single disruption event in controls. A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6 %) compared to one gene in 1/528 controls (0.2 %; P = 0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P = 0.03). There were 34 miRNA regions deleted in at least one case but not in controls, the most frequent of which encompassed hsa-mir-661 and hsa-mir-203. Our study implicates rare germline deletions of functional and regulatory regions as possible mechanisms conferring endometrial cancer risk, and has identified specific regulatory elements as candidates for further investigation.]]> Sat 24 Mar 2018 07:27:02 AEDT ]]> Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database /manager/Repository/uon:20652 Mon 14 Dec 2020 14:04:44 AEDT ]]>