https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43755 Wed 28 Sep 2022 14:06:50 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45034 Wed 26 Oct 2022 11:06:26 AEDT ]]> 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:30006 Wed 17 Nov 2021 16:29:49 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:37273 MSH3, PMS1, MLH3, EXO1, POLD1, POLD3 RFC1, RFC2, RFC3, RFC4, RFC5, PCNA, LIG1, RPA1, RPA2, RPA3, POLD2, POLD4, MLH1, MSH2, MSH6, and PMS2) in 274 LLS patients. Detected variants were annotated and filtered using ANNOVAR and FILTUS software. Results: Thirteen variants were revealed in MLH1, MSH2, and MSH6, all genes previously linked to LS. Five additional genes (EXO1, POLD1, RFC1, RPA1, and MLH3) were found to harbor 11 variants of unknown significance in our sample cohort, two of them being frameshift variants. Conclusion: We have shown that other genes associated with the process of DNA MMR have a high probability of being associated with LLS families. These findings indicate that the spectrum of genes that should be tested when considering an entity like Lynch‐like syndrome should be expanded so that a more inclusive definition of this entity can be developed.]]> Wed 17 Nov 2021 16:28:09 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:37272 Wed 16 Sep 2020 14:03:32 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10386 Wed 11 Apr 2018 17:00:11 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:16807 -9), and IKZF1 rs1110701 (OR 1.69, CI 1.42–2.02, p = 7.26 x 10^-9). There was evidence of gene-environment interaction for risk genotype at IKZF1, whereby an apparently stronger genetic effect was observed if the mother took folic acid or if the father did not smoke prior to pregnancy (respective interaction P-values: 0.04, 0.05). There were no interactions of risk genotypes with age or sex (P-values >0.2). Our results evidence that interaction of genetic variants and environmental exposures may further alter risk of childhood ALL however, investigation in a larger population is required. If interaction of folic acid supplementation and IKZF1 variants holds, it may be useful to quantify folate levels prior to initiating use of folic acid supplements.]]> Wed 11 Apr 2018 16:52:33 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:14804 Wed 11 Apr 2018 14:46:12 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:16788 55 years of age). Results: CNV analysis revealed the presence of 275 unique rearrangements that were not present in the control population suggestive of their involvement in BC risk. Several CNVs were found that have been previously reported as BC susceptibility genes. This included CNVs in RPA3, NBN (NBS1), MRE11A and CYP19A1 in five unrelated fBC patients suggesting that these genes are involved in BC initiation and/or progression. Of special interest was the identification of WWOX and FHIT rearrangements in three unrelated fBC patients. Conclusions: This study has identified a number of CNVs that potentially contribute to BC initiation and/or progression. The identification of CNVs that are associated with known tumour suppressor genes is of special interest that warrants further larger studies to understand their precise role in fBC.]]> Wed 11 Apr 2018 14:30:00 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13896 Wed 11 Apr 2018 14:01:17 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:15053 Wed 11 Apr 2018 13:24:44 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:13895 Wed 11 Apr 2018 11:47:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:14417 Wed 11 Apr 2018 11:44:21 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:4380 Wed 11 Apr 2018 10:34:48 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34524 Wed 06 Apr 2022 13:58:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30018 Tue 20 Sep 2022 14:49:52 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43079 Tue 13 Sep 2022 12:12:24 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:24811 Thu 27 Jan 2022 15:55:07 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:14315 Sat 24 Mar 2018 08:24:40 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:19920 Sat 24 Mar 2018 08:03:46 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23143 Sat 24 Mar 2018 07:10:33 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53956 Mon 22 Jan 2024 17:02:37 AEDT ]]>