Table 16 Summary of studies of genomic panel testing undertaken as part of method development, assessment of test performance or tumour characterisation for research purposes Lead Citation type Country Diagnostic test Context/Study Date Test method(s) Use of archive Outcomes author/Year type tissue reported potentially relevant to this submission Peeters 2010 Conference Mulit-national Multi-cancer Re-examination 320 patients Not reported Next generation Archival tumour Test failures abstract gene testing for of clinical trial sequencing; tissue used profiling mCRC participants pyrosequncing previously tested for KRAS mutations Conference Multi-cancer Method Parallel Not specified Estimated Walthier 2012 US Not applicable Not reported abstract gene testing for development Taqman whether testing TATO profiling solid and experience array system; was on newly tumours of a single pyrosequencing acquired, testing facility archive tissue or either Wagle 2013 Conference US Multi-cancer Method Tissues from 15 Not reported Whole exome Archive FFPE TATRR abstract gene testing in development; patients sequencing tissue, various tumour feasibility study types Hagermann Full journal US Targeted Feasibility study 381 consecutive Mar 2012-Oct Next generation Archival FFPE Test failures 2015 article sequencing of of routine samples 2013 sequencing tissues TATO 23 genes in targeted gene NSCLC profiling; single testing centre Melchior 2015 Full journal Multi-national; 6 BRAF mutation Evaluation of 148 left over Not reported RT-PCR (Idylla) Reviewed Test failures article centres testing in test samples archive FFPE TATRT malignant performance tissue melanoma compared to original assessments made by several routine
Table 16 Summary of studies of genomic panel testing undertaken as part of method development, assessment of test performance or tumour characterisation for research purposes Lead author/Year Citation type Country Diagnostic test Context/Study type Date Test method(s) Use of archive tissue Outcomes reported potentially relevant to this submission Peeters 2010 Conference abstract Mulit-national Multi-cancer gene testing for profiling mCRC Re-examination of clinical trial participants previously tested for KRAS mutations 320 patients Not reported Next generation sequencing; pyrosequncing Archival tumour tissue used Test failures Walthier 2012 Conference abstract US Multi-cancer gene testing for profiling solid tumours Method development and experience of a single testing facility Not applicable Not reported Parallel Taqman array system; pyrosequencing Not specified whether testing was on newly acquired, archive tissue or either Estimated TATO Wagle 2013 Conference abstract US Multi-cancer gene testing in various tumour types Method development; feasibility study Tissues from 15 patients Not reported Whole exome sequencing Archive FFPE tissue, TATRR Hagermann 2015 Full journal article US Targeted sequencing of 23 genes in NSCLC Feasibility study of routine targeted gene profiling; single testing centre 381 consecutive samples Mar 2012-Oct 2013 Next generation sequencing Archival FFPE tissues Test failures TATO Melchior 2015 Full journal article Multi-national; 6 centres BRAF mutation testing in malignant melanoma Evaluation of test performance compared to original assessments made by several routine 148 left over samples Not reported RT-PCR (Idylla) Reviewed archive FFPE tissue Test failures TATRT
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