title: Sequencing Structural Variants in Cancer for Precision Therapeutics.
abstract: The identification of mutations that guide therapy selection for patients with cancer is now routine in many clinical centres. The majority of assays used for solid tumour profiling use DNA sequencing to interrogate somatic point mutations because they are relatively easy to identify and interpret. Many cancers, however, including high-grade serous ovarian, oesophageal, and small-cell lung cancer, are driven by somatic structural variants that are not measured by these assays. Therefore, there is currently an unmet need for clinical assays that can cheaply and rapidly profile structural variants in solid tumours. In this review we survey the landscape of 'actionable' structural variants in cancer and identify promising detection strategies based on massively-parallel sequencing.
authors.affiliation: Cancer Research UK Cambridge Institute, University of Cambridge, UK.
authors.forename: Geoff
authors.initials: G
authors.lastname: Macintyre
authors.affiliation: Department of Pathology, VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands.
authors.forename: Bauke
authors.initials: B
authors.lastname: Ylstra
authors.affiliation: Cancer Research UK Cambridge Institute, University of Cambridge, UK. Electronic address: james.brenton@cruk.cam.ac.uk.
authors.forename: James D
authors.initials: JD
authors.lastname: Brenton
mesh_terms: D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA
keywords: cancer; clinical sequencing; shallow whole-genome sequencing; structural variation