https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23155 Wed 24 Aug 2016 15:58:37 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14702 Wed 11 Apr 2018 16:44:59 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19784 Wed 11 Apr 2018 13:29:49 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:13923 Sat 24 Mar 2018 08:24:50 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23143 Sat 24 Mar 2018 07:10:33 AEDT ]]>