https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for acute lymphoblastic leukemia and lymphoma in caucasian children https://ogma.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 ]]> Genome-wide association study of germline variants and breast cancer-specific mortality https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47795 Tue 31 Jan 2023 15:32:49 AEDT ]]> Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:48335 Tue 14 Mar 2023 17:16:01 AEDT ]]> RAD51B in familial breast cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50033 T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.]]> Thu 29 Jun 2023 13:56:37 AEST ]]> CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:49307 Thu 11 May 2023 14:39:42 AEST ]]> Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:44579 Mon 17 Oct 2022 14:17:20 AEDT ]]>