作者: Yekaterina B. Khotskaya , Gordon B. Mills , Kenna R. Mills Shaw
DOI: 10.1146/ANNUREV-MED-102115-021556
关键词: Clinical trial 、 DNA sequencing 、 Cancer gene 、 Cancer therapy 、 Data interpretation 、 Bioinformatics 、 Clinical Oncology 、 Computational biology 、 Medicine
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...