https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:36129 Wed 17 Nov 2021 16:30:50 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24864 Wed 11 Apr 2018 12:41:17 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50514 Wed 02 Aug 2023 14:43:54 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:31439 MLH1 promoter locus for dual MLH1/PMS2 negative tumours. On the basis of these results, genetic counselling and targeted germline mutation testing is then offered to patients considered at high risk of LS. From 1 August 2013 to 31 December 2015, 124 patients were screened (mean age 64.6 years). Thirty-six (29.0%) demonstrated abnormal MMR IHC: 26 (72.2%) showed dual loss of MLH1/PMS2, five (13.9%) dual loss of MSH2/MSH6, three (8.3%) isolated loss of MSH6, and two (5.6%) isolated loss of PMS2. Twenty-five of 26 (96.1%) patients with dual MLH1/PMS2 loss demonstrated MLH1 promoter methylation. Therefore, 11 (8.9%) patients screened were classified as high risk for LS, of whom nine (81.8%) accepted germline mutation testing. Three (2.4% of total screened) were confirmed to have LS, two with germline PMS2 and one with germline MSH2 mutation. Massive parallel sequencing of tumour tissue demonstrated somatic mutations which were concordant with the IHC results in the remainder. Interestingly, the one MLH1/PMS2 IHC negative but not hypermethylated tumour harboured only somatic MLH1 mutations, indicating that universal cascade methylation testing in MLH1/PMS2 IHC negative tumours is very low yield and could be reconsidered in a resource-poor setting. In conclusion, universal screening for LS in patients presenting with gynaecological malignancy using the algorithm described above identified LS in three of 124 (2.4%) of our population. Only three of nine (33.3%) patients considered at high risk for LS by combined IHC and hypermethylation analysis were proven to have LS. Only one of the LS patients was less than 50 years of age and none of these patients would have been identified had more restrictive Amsterdam or Bethesda criteria been applied.]]> Thu 27 Jan 2022 15:57:55 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15467 Sat 24 Mar 2018 08:19:03 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:10771 Sat 24 Mar 2018 08:13:54 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:18742 2 years) was associated with poor survival in both groups.Conclusions: FPC represents 9% of PC, and the risk of malignancy in kindred does not appear to be confined to the pancreas. Patients with FPC have more precursor lesions and include fewer active smokers, but other clinicopathologic factors and outcome are similar to those in patients with SPC. Furthermore, some FPC kindreds may exhibit anticipation. A better understanding of the clinical features of PC will facilitate efforts to uncover novel susceptibility genes and the development of early detection strategies.]]> Sat 24 Mar 2018 08:02:49 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20038 Sat 24 Mar 2018 07:50:54 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47367 Fri 13 Jan 2023 14:57:43 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:46225 Fri 09 Dec 2022 14:48:55 AEDT ]]>