David Solit, Gopa Iyer and collaborators were intrigued by the results of a phase II clinical trial assessing the mTOR inhibitor everolimus, as a single agent in the treatment of progressive, metastatic bladder cancer, in which one patient showed a complete response to the drug within 1 year of treatment initiation. They hypothesized that a specific genetic lesion within this patient's tumor was responsible for such response. To test their hypothesis the researchers used whole-genome sequencing of DNA derived from both tumor and peripheral blood from this patient. Read more here.
Study mentioned: Iyer G, et al. Genome sequencing identifies a basis for everolimus sensitivity. Science. 2012 Oct 12;338(6104):221. PMID: 22923433
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