Next-Generation Sequencing and Result Interpretation in Clinical Oncology: Challenges of Personalized Cancer Therapy

作者: Yekaterina B. Khotskaya , Gordon B. Mills , Kenna R. Mills Shaw

DOI: 10.1146/ANNUREV-MED-102115-021556

关键词: Clinical trialDNA sequencingCancer geneCancer therapyData interpretationBioinformaticsClinical OncologyComputational biologyMedicine

摘要: The tools of next-generation sequencing (NGS) technology, such as targeted candidate cancer genes and whole-exome -genome sequencing, coupled with encouraging clinical results based on the use therapeutics biomarker-guided trials, are fueling further technological advancements NGS technology. However, data interpretation is associated challenges that must be overcome to promote techniques' effective integration into oncology practice. Specifically, a patient's tumor often yields 30–65 somatic variants, but most these variants “passenger” mutations phenotypically neutral thus not targetable. Therefore, interpreted by multidisciplinary decision-support teams determine mutation actionability identify potential “drivers,” so treating physician can prioritize what decisions pursued in order provide therapy personalized patient his or...

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