https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27053 Wed 11 Apr 2018 16:37:42 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:4866 Wed 11 Apr 2018 16:25:23 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:27601 Wed 11 Apr 2018 15:11:09 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28485 Wed 11 Apr 2018 14:12:51 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21177 Wed 11 Apr 2018 13:14:15 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38090 telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS. We combined genotype data from 1881 LS patients, carrying pathogenic variants in MLH1, MSH2 or MSH6, for rs2075786 (G>A, intronic variant), 1207 LS patients for rs2736108 (C>T, upstream variant) and 1201 LS patients for rs7705526 (C>A, intronic variant). The risk of cancer was estimated by heterozygous/homozygous odds ratio (OR) with mixed-effects logistic regression to adjust for gene/gender/country of sample origin considering family identity. The AA genotype of SNP rs2075786 is associated with 85% higher odds at developing cancer compared to GG genotype in MSH2 pathogenic variant carriers (p = 0.0160). Kaplan–Meier analysis also shows an association for rs2075786; the AA allele for MSH2 variant carriers confers risk for earlier diagnosis of LS cancer (log-rank p = 0.0011). We report a polymorphism in TERT to be a possible modifier of disease risk in MSH2 pathogenic variant carriers. The rs2075786 SNP in TERT is associated with a differential risk of developing cancer for MSH2 pathogenic variant carriers. Use of this information has the potential to personalise screening protocols for LS patients.]]> Tue 03 Aug 2021 19:10:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8123 Sat 24 Mar 2018 08:40:02 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:8339 T and 1298 A>C, that alter the function of the encoded protein have been the focus of many studies on CRC risk outside the context of an inherited predisposition to disease. In this report, a total of 417 HNPCC participants were genotyped for the 677 C>T and 1298 A>C SNPs to determine whether there exists an association with the age of disease onset of CRC. Genotyping of both SNPs was performed by TaqMan assay technology. Associations in disease risk were further investigated using Kaplan–Meier survival analysis and Cox hazard regression. The average ages of disease diagnosis were found to be different between individuals harbouring either one of the MTHFR polymorphisms. Both Kaplan–Meier and Cox hazard regression analyses revealed a more complex relationship between the two polymorphisms and the age of CRC onset. The Kaplan–Meier survival analysis revealed that compound heterozygotes for the two SNPs developed CRC 10 years later compared with those carrying only wild-type alleles.]]> Sat 24 Mar 2018 08:39:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:7033 Sat 24 Mar 2018 08:37:51 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:1921 50 years of age was significantly elevated compared with the control population (odds ratio, 2.23; P = 0.0046). The results indicate that NOD2 may be a predisposing factor to colorectal cancer characterized by an older average age of disease onset in persons who do not harbor any other genetic predisposition to disease.]]> Sat 24 Mar 2018 08:33:08 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14315 Sat 24 Mar 2018 08:24:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:11144 Sat 24 Mar 2018 08:08:29 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20280 Sat 24 Mar 2018 07:59:53 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:5435 Sat 24 Mar 2018 07:48:14 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:4898 Sat 24 Mar 2018 07:22:58 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23143 Sat 24 Mar 2018 07:10:33 AEDT ]]>