Genome sequencing identifies a basis for everolimus sensitivity

G Iyer, AJ Hanrahan, MI Milowsky, H Al-Ahmadie… - Science, 2012 - science.org
G Iyer, AJ Hanrahan, MI Milowsky, H Al-Ahmadie, SN Scott, M Janakiraman, M Pirun…
Science, 2012science.org
Cancer drugs often induce dramatic responses in a small minority of patients. We used
whole-genome sequencing to investigate the genetic basis of a durable remission of
metastatic bladder cancer in a patient treated with everolimus, a drug that inhibits the mTOR
(mammalian target of rapamycin) signaling pathway. Among the somatic mutations was a
loss-of-function mutation in TSC1 (tuberous sclerosis complex 1), a regulator of mTOR
pathway activation. Targeted sequencing revealed TSC1 mutations in about 8% of 109 …
Cancer drugs often induce dramatic responses in a small minority of patients. We used whole-genome sequencing to investigate the genetic basis of a durable remission of metastatic bladder cancer in a patient treated with everolimus, a drug that inhibits the mTOR (mammalian target of rapamycin) signaling pathway. Among the somatic mutations was a loss-of-function mutation in TSC1 (tuberous sclerosis complex 1), a regulator of mTOR pathway activation. Targeted sequencing revealed TSC1 mutations in about 8% of 109 additional bladder cancers examined, and TSC1 mutation correlated with everolimus sensitivity. These results demonstrate the feasibility of using whole-genome sequencing in the clinical setting to identify previously occult biomarkers of drug sensitivity that can aid in the identification of patients most likely to respond to targeted anticancer drugs.
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