Defining the clinical genomic landscape for real-world precision oncology

Beer, P. A., Cooke, S. L. , Chang, D. K. and Biankin, A. V. (2020) Defining the clinical genomic landscape for real-world precision oncology. Genomics, 112(6), pp. 5324-5330. (doi: 10.1016/j.ygeno.2020.10.032) (PMID:33144218) (PMCID:PMC7758710)

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Abstract

Through the delivery of large international projects including ICGC and TCGA, knowledge of cancer genomics is reaching saturation point. Enabling this to improve patient outcomes now requires embedding comprehensive genomic profiling into routine oncology practice. Towards this goal, this study defined the biologically and clinically relevant genomic features of adult cancer through detailed curation and analysis of large genomic datasets, accumulated literature and biomarker-driven therapeutics in clinic and development. The characteristics and prevalence of these features were then interrogated in 2348 whole genome sequences, covering 21 solid tumour types, generated by the PCAWG project. This analysis highlights the predominant contribution of copy number alterations and identifies a critical role for disruptive structural variants in the inactivation of clinically important tumour suppressor genes, including PTEN and RB1, which are not currently captured by diagnostic assays. This study defines a set of essential genomic features for the characterisation of common adult cancers.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Chang, Dr David and Cooke, Dr Susie and Biankin, Professor Andrew
Authors: Beer, P. A., Cooke, S. L., Chang, D. K., and Biankin, A. V.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Genomics
Publisher:Elsevier
ISSN:0888-7543
ISSN (Online):1089-8646
Published Online:02 November 2020
Copyright Holders:Copyright © 2020 The Authors
First Published:First published in Genomics 112(6): 5324-5330
Publisher Policy:Reproduced under a Creative Commons license

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
170634Defining Platinum and PARP Responsive Molecular Phenotypes of Pancreatic Cancer.Andrew BiankinWellcome Trust (WELLCOTR)103721/Z/14/ZInstitute of Cancer Sciences
169396Genotype Guided Stratified Therapy for Pancreatic CancerAndrew BiankinCancer Research UK (CRUK)C29717/A17263Institute of Cancer Sciences
169638Genotype Guided Stratified Therapy for Pancreatic CancerAndrew BiankinCancer Research UK (CRUK)C29717/A18484CS -Translational Research Centre
190874CR-UK Centre renewalKaren VousdenNot Applicable (NA)C596/A18076Institute of Cancer Sciences
172008Clinical Training Award Cycle 2Andrew BiankinCancer Research UK (CRUK)C596/A20921CS -Translational Research Centre
174160Precision PancAndrew BiankinCancer Research UK (CRUK)C29717/A23526CS -Translational Research Centre