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Whole Cancer Genome Sequencing by Next-Generation Methods

Jeffrey S. Ross MD, Maureen Cronin PhD
DOI: http://dx.doi.org/10.1309/AJCPR1SVT1VHUGXW 527-539 First published online: 1 October 2011


Traditional approaches to sequence analysis are widely used to guide therapy for patients with lung and colorectal cancer and for patients with melanoma, sarcomas (eg, gastrointestinal stromal tumor), and subtypes of leukemia and lymphoma. The next-generation sequencing (NGS) approach holds a number of potential advantages over traditional methods, including the ability to fully sequence large numbers of genes (hundreds to thousands) in a single test and simultaneously detect deletions, insertions, copy number alterations, translocations, and exome-wide base substitutions (including known “hot-spot mutations”) in all known cancer-related genes. Adoption of clinical NGS testing will place significant demands on laboratory infrastructure and will require extensive computational expertise and a deep knowledge of cancer medicine and biology to generate truly useful “clinically actionable” reports. It is anticipated that continuing advances in NGS technology will lower the overall cost, speed the turnaround time, increase the breadth of genome sequencing, detect epigenetic markers and other important genomic parameters, and become applicable to smaller and smaller specimens, including circulating tumor cells and circulating free DNA in plasma.

Key Words:
  • Cancer
  • Next-generation sequencing
  • Massively parallel sequencing
  • Personalized oncology
  • Molecular diagnostics
  • Colorectal cancer
  • Non–small cell lung cancer
  • Melanoma
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