Representative sequencing: Profiling extreme tumor diversity

Date 14 September 2018
Event MAP 2018 - Molecular Analysis for Personalised Therapy
Session Therapeutic targets
Topics Translational Research
Presenter Kevin Litchfield
Citation Annals of Oncology (2018) 29 (ersion="1.0" encoding="utf-8"?>
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Authors K. Litchfield1, C. Swanton2, S. Turajlic3
  • 1Swanton Lab, The Francis Crick Institute, NW1 1AT - London/GB
  • 2Translational Cancer Therapeutics, The Francis Crick Institute, NW1 1AT - London/GB
  • 3The Francis Crick Institute, NW1 1AT - London/GB


While next-generation sequencing (NGS) has been applied to thousands of solid tumors to date, there exists a fundamental undersampling bias inherent in current methodologies. This is caused by a biopsy input sample of fixed dimensions, which becomes grossly under-powered as tumor volume scales. Indeed, analysis of pan-cancer data reveals that current protocols sample on average only 1.5% of cancer cells, decreasing to 0.3% for stage IV tumors. Failure to address this bias risks undermining the clinical utility of genomic medicine in cancer.