https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:39993 p < 5 x 10⁻⁸) in either cohort. Among the top 34 single-nucleotide polymorphisms (SNPs) (p < 1 x 10⁻⁶), two loci had concordant effects in both cohorts: ALOX15B (rs1804772) (MAF: 1%; p = 3.95 x 10⁻⁷) that influences arachidonic acid metabolism and thus platelet aggregation, and KALRN (rs570684) (MAF: 1%; p = 4.34 x 10⁻⁷) that has been previously associated with risk of ischemic stroke, atherosclerosis, and early-onset coronary artery disease. Conclusion: This represents the largest GWAS meta-analysis conducted to date associating SNPs to VTE in children and adolescents treated on childhood ALL protocols. Validation of these findings is needed and may then lead to patient stratification for VTE preventive interventions. As VTE hemostasis involves multiple pathways, a more powerful GWAS is needed to detect combination of variants associated with VTE.]]> Wed 20 Jul 2022 14:36:48 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34522  T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2. Together with mutations in MEN1 and VHL, these mutations occur in 17% of patients. Somatic mutations, including point mutations and gene fusions, were commonly found in genes involved in four main pathways: chromatin remodelling, DNA damage repair, activation of mTOR signalling (including previously undescribed EWSR1 gene fusions), and telomere maintenance. In addition, our gene expression analyses identified a subgroup of tumours associated with hypoxia and HIF signalling.]]> Wed 06 Apr 2022 13:56:37 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34276 MLH1 and MSH2. Defining mutation load in individual pancreatic cancers and the optimal assay for patient selection may inform clinical trial design for immunotherapy in pancreatic cancer.]]> Thu 13 Jan 2022 10:31:35 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27570 Sat 24 Mar 2018 07:23:30 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:44512 Fri 14 Oct 2022 09:11:36 AEDT ]]>