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, Professor 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 > School 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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