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|Title:||Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.||Austin Authors:||Wong, S Q;Fellowes, A;Doig, K;Ellul, J;Bosma, T J;Irwin, D;Vedururu, R;Tan, A Y-C;Weiss, Jonathan;Chan, K S;Lucas, M;Thomas, D M;Dobrovic, Alexander ;Parisot, J P;Fox, S B||Affiliation:||Department of Pathology, The University of Melbourne, Parkville, Victoria, Australia
Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia
Division of Cancer Research, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria, Australia
Division of Cancer Research, Department of Bioinformatics, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Agena Bioscience, Herston, Brisbane, Australia
Department of Pathology, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia
Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia
Department of Pathology, Singapore General Hospital, Singapore 169608, Singapore.
Clinical Informatics and Data Management Unit, Alfred Centre, Monash University, Melbourne, Victoria, Australia
The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Victoria Street, Darlinghurst, New South Wales, Australia
|Issue Date:||5-Mar-2015||Publication information:||British Journal of Cancer 2015; 112(8): 1411-20||Abstract:||Recent discoveries in cancer research have revealed a plethora of clinically actionable mutations that provide therapeutic, prognostic and predictive benefit to patients. The feasibility of screening mutations as part of the routine clinical care of patients remains relatively unexplored as the demonstration of massively parallel sequencing (MPS) of tumours in the general population is required to assess its value towards the health-care system.Cancer 2015 study is a large-scale, prospective, multisite cohort of newly diagnosed cancer patients from Victoria, Australia with 1094 patients recruited. MPS was performed using the Illumina TruSeq Amplicon Cancer Panel.Overall, 854 patients were successfully sequenced for 48 common cancer genes. Accurate determination of clinically relevant mutations was possible including in less characterised cancer types; however, technical limitations including formalin-induced sequencing artefacts were uncovered. Applying strict filtering criteria, clinically relevant mutations were identified in 63% of patients, with 26% of patients displaying a mutation with therapeutic implications. A subset of patients was validated for canonical mutations using the Agena Bioscience MassARRAY system with 100% concordance. Whereas the prevalence of mutations was consistent with other institutionally based series for some tumour streams (breast carcinoma and colorectal adenocarcinoma), others were different (lung adenocarcinoma and head and neck squamous cell carcinoma), which has significant implications for health economic modelling of particular targeted agents. Actionable mutations in tumours not usually thought to harbour such genetic changes were also identified.Reliable delivery of a diagnostic assay able to screen for a range of actionable mutations in this cohort was achieved, opening unexpected avenues for investigation and treatment of cancer patients.||Gov't Doc #:||25742471||URI:||http://ahro.austin.org.au/austinjspui/handle/1/12671||DOI:||10.1038/bjc.2015.80||ORCID:||0000-0003-3414-112X||URL:||https://pubmed.ncbi.nlm.nih.gov/25742471||Type:||Journal Article|
|Appears in Collections:||Journal articles|
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