https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46246 Wed 28 Feb 2024 14:48:47 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14811 Wed 11 Apr 2018 14:25:00 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:635 Thu 25 Jul 2013 09:10:35 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:154 g and Nt540c>t, which have been detected in other populations. To establish if they are associated with an increased malignant melanoma (MM) risk we did an association study based on genotyping 471 patients with MM and 1,2 10 random control subjects from the same Polish population. We found a significantly increased frequency of the A148T variant among patients with MM (7.0%) in comparison with the general population (2.9%). The incidence of the A148T variant remained greater in both unselected and familial melanoma subgroups. A statistically significant positive association was seen for unselected MM (odds ratio, 2.529; P = 0.0003), especially in patients diagnosed under 50 years of age (odds ratio, 3.4; P = 0.0002). The A148T carrier population (heterozygous G/A alleles) was more likely to have a relative with malignancy compared with the noncarrier population (57% versus 36%, respectively; P = 0.03). Further examination of the CDKN2A promoter sequence done in 20 melanoma patients with the A148T change (heterozygous G/A alleles) and 20 patients with MM without this alteration identified it was in linkage disequilibrium with a polymorphism in the promoter region at position P-493. We found no statistically significant overrepresentation of the Nt500c>g and the Nt540c>t polymorphisms in the Polish melanoma population. In conclusion, the A148T variant of the CDKN2A gene seems to be associated with an increased risk of development of MM. Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies.]]> Thu 25 Jul 2013 09:09:40 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:1901 Sat 24 Mar 2018 08:33:07 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10608 C single nucleotide substitution within the repeats, result in genotypes with 0–5 functional upstream stimulatory factor (USF) E-box consensus elements. However, the relationship between these polymorphisms, regulation of TS expression and patient response to fluoropyrimidine treatment has been inconsistent. In this study, seven possible TSER allele configurations showed similar patterns of luciferase gene expression regardless of cell type or USF-1 content, with no significant difference in promoter activity between the wild-type 2RGC and 3RGGC (1.40±0.37 vs 1.43±0.32, P=0.90), whereas the minor alleles, 2RCC and 3RGCC, were significantly reduced (0.84±0.17, P=0.01) and increased (3.19±0.72, P=0.001) respectively. Patient plasma levels of 2′-deoxyuridine, a surrogate marker of TS activity, were significantly different between genotypes (P<0.001) and inversely related to luciferase activity (P=0.02) but not to the absolute number of functional repeated elements (P=0.16), suggesting that the position, rather than the number of functional USF E-box repeats in the TSER, is responsible for determining gene expression in vitro and TS activity in vivo.]]> Sat 24 Mar 2018 08:13:50 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:37448 Mon 30 Nov 2020 10:12:19 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43406 Fri 16 Sep 2022 10:54:33 AEST ]]>