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Sequencing Structural Variants in Cancer for Precision Therapeutics.

Accepted version
Peer-reviewed

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Authors

Ylstra, Bauke 
Brenton, James D 

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.

Description

Keywords

cancer, clinical sequencing, shallow whole-genome sequencing, structural variation, High-Throughput Nucleotide Sequencing, Humans, Mutation, Neoplasms, Sequence Analysis, DNA

Journal Title

Trends Genet

Conference Name

Journal ISSN

0168-9525
1362-4555

Volume Title

32

Publisher

Elsevier BV
Sponsorship
Cancer Research UK (A15973)
Cancer Research UK (A15601)
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].