99IN - Next generation DNA sequencing: First results in breast cancer

Date 01 October 2012
Event ESMO Congress 2012
Session ESMO-ASCO Joint symposium: Genomics in breast cancer: Opening new doors
Topics Breast Cancer
Personalised/Precision Medicine
Translational Research
Basic Principles in the Management and Treatment (of cancer)
Presenter Peter Campbell
Authors P. Campbell
  • Cancer Genome Project, Wellcome Trust Sanger Institute, CB10 1SA - Cambridge/UK


Cancer is driven by mutation. Using massively parallel sequencing technology, we can now sequence the entire genome of cancer samples, allowing the generation of comprehensive catalogues of somatic mutations of all classes. Bespoke algorithms have been developed to identify somatically acquired point mutations, copy number changes and genomic rearrangements, which require extensive validation by confirmatory testing. The findings from our first handful of breast cancer genomes illustrate the potential for next-generation sequencing to provide unprecedented insights into mutational processes, cellular repair pathways and gene networks associated with cancer development. I will also review possible applications of these technologies in a diagnostic and clinical setting, and the potential routes for translation.


The author has declared no conflicts of interest.