期刊
TRENDS IN GENETICS
卷 32, 期 9, 页码 530-542出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2016.07.002
关键词
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资金
- Cancer Research UK [A15973, A15601d]
- VUmc Cancer Center Amsterdam (VUmc-CCA)
- Dutch Cancer Society [VU 2015-7882]
- Cancer Research UK [15601, 15973] Funding Source: researchfish
- Cancer Research UK
- Healthway [22905] Funding Source: researchfish
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.
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