https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index en-au 5 CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:24073 -11). SNP rs727479 was also among those most strongly associated with circulating E₂ concentrations in 2767 post-menopausal controls (P=7.4x10-8). The observed endometrial cancer odds ratio per rs727479 A-allele (1.15, CI=1.11-1.21) is compatible with that predicted by the observed effect on E₂ concentrations (1.09, CI=1.03-1.21), consistent with the hypothesis that endometrial cancer risk is driven by E₂. From 28 candidate-causal SNPs, 12 co-located with three putative gene-regulatory elements and their risk alleles associated with higher CYP19A1 expression in bioinformatical analyses. For both phenotypes, the associations with rs727479 were stronger among women with a higher BMI (Pinteraction=0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction.]]> Wed 19 Apr 2023 16:42:45 AEST ]]> Genetic risk score mendelian randomization shows that obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:30306 Wed 15 Dec 2021 16:09:28 AEDT ]]> 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://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:19379 Wed 11 Apr 2018 14:19:24 AEST ]]> Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:28231 Wed 01 Aug 2018 14:52:20 AEST ]]> Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:20561 Tue 10 Oct 2023 08:38:59 AEDT ]]> Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk https://novaprd-lb.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.]]> Tue 10 Oct 2023 08:38:44 AEDT ]]> Genome-wide association study identifies a possible susceptibility locus for endometrial cancer https://novaprd-lb.newcastle.edu.au/vital/access/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 https://novaprd-lb.newcastle.edu.au/vital/access/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 ]]> Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade https://novaprd-lb.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://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:26799 Sat 24 Mar 2018 07:36:26 AEDT ]]> Genetic overlap between endometriosis and endometrial cancer: Evidence from cross-disease genetic correlation and GWAS meta-analyses https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:48810 Mon 10 Apr 2023 10:28:37 AEST ]]>