Sequencing Structural Variants in Cancer for Precision Therapeutics
Publication Date
2016-07-29Journal Title
Trends in Genetics
ISSN
0168-9525
Publisher
Cell/Elsevier
Volume
32
Pages
530-542
Language
English
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Macintyre, G., Ylstra, B., & Brenton, J. (2016). Sequencing Structural Variants in Cancer for Precision Therapeutics. Trends in Genetics, 32 530-542. https://doi.org/10.1016/j.tig.2016.07.002
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.
Keywords
shallow whole-genome sequencing, structural variation, clinical sequencing, cancer
Sponsorship
This work was supported by Cancer Research UK [grant numbers A15973, A15601: 454 G.M, J.D.B], VUmc Cancer Center Amsterdam [VUmc-CCA: BY] and the Dutch 455 Cancer Society [VU 2015-7882: BY].
Funder references
Cancer Research UK (CRUK-A15973)
Cancer Research UK (CRUK-A15601)
Identifiers
External DOI: https://doi.org/10.1016/j.tig.2016.07.002
This record's URL: https://www.repository.cam.ac.uk/handle/1810/257380
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International, Attribution-NonCommercial-NoDerivatives 4.0 International, Attribution-NonCommercial-NoDerivatives 4.0 International
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