Solid tumor profiling via next-generation sequencing to identify tumor-specific actionable variants.

2015 
1539 Background: Different tumor types are often associated with reoccurring mutations. Performing detailed genetic profiling to identify the milieu of actionable gene variants characteristic of specific tumors may guide targeted approaches to treatment, as well as uncover new therapeutic targets. To this end, we used a next-generation sequencing approach to identify characteristic actionable variants across various solid tumor types. Methods: DNA from FFPE sections of 58 solid tumor samples (15 colon, 14 ovarian, 13 lung, 11 melanoma, and 5 squamous cell carcinoma) was sequenced using the Jackson Laboratory Cancer Treatment Profile, a 358-gene targeted panel and submitted to the Clinical Genomics Analytical (CGA) bioinformatics pipeline. Resultant variant calls were filtered based on impact and actionable variants (defined as those having therapeutic relevance) were identified through extensive literature review from in-house curation efforts. Results: Tumor profiling for actionable variants demonstrated...
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