Development of personalized tumor biomarkers using massively parallel sequencing.

作者: R. J. Leary , I. Kinde , F. Diehl , K. Schmidt , C. Clouser

DOI: 10.1126/SCITRANSLMED.3000702

关键词: CancerSequence analysisComputational biologyDNAGene rearrangementPersonalized medicineBioinformaticsPolymerase chain reactionBiologyMassive parallel sequencingBreakpoint

摘要: Clinical management of human cancer is dependent on the accurate monitoring residual and recurrent tumors. The evaluation patient-specific translocations in leukemias lymphomas has revolutionized diagnostics for these diseases. We have developed a method, called personalized analysis rearranged ends (PARE), which can identify solid Analysis four colorectal two breast cancers with massively parallel sequencing revealed an average nine sequences (range, 4 to 15) per tumor. Polymerase chain reaction primers spanning breakpoints was able detect mutant DNA molecules present at levels lower than 0.001% readily identified mutated circulating patient plasma samples. This approach provides exquisitely sensitive broadly applicable development biomarkers enhance clinical patients.

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