/manager/Index ${session.getAttribute("locale")} 5 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes /manager/Repository/uon:13893 Wed 11 Apr 2018 10:36:53 AEST ]]> Lessons learnt from implementation of a Lynch syndrome screening program for patients with gynaecological malignancy /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.]]> Sat 24 Mar 2018 08:43:48 AEDT ]]> KRAS mutation testing of metastatic colorectal cancer in Australia: where are we at? /manager/Repository/uon:20630 Sat 24 Mar 2018 07:55:48 AEDT ]]> KRAS mutation testing in colorectal cancer: the model for molecular pathology testing in the future /manager/Repository/uon:28574 Sat 24 Mar 2018 07:35:50 AEDT ]]>