Research ArticleCancer

Personalized genomic analyses for cancer mutation discovery and interpretation

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Science Translational Medicine  15 Apr 2015:
Vol. 7, Issue 283, pp. 283ra53
DOI: 10.1126/scitranslmed.aaa7161

Will the real mutation please stand up?

When a patient is diagnosed with cancer, a sample of the tumor is often analyzed to look for mutations that might guide the approach to targeted treatment of the disease. Jones et al. analyzed samples from more than 800 patients with 15 different cancer types and showed that this standard approach is not necessarily accurate without also analyzing a matched sample of normal DNA from the same patient. The authors found that, compared to analysis of paired samples, the standard tumor-only sequencing approach frequently identified mutations that were present in the patient’s normal tissues and were therefore not suitable for targeted therapy or, conversely, missed useful new mutations in the tumor.

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