Evaluating additional genomic variants identified by a 52 gene panel used for identification of actionable mutations in non-squamous non-small cell lung cancers

Abstract

Lung cancer leads global cancer mortality. Much of North America now employs next-generation sequencing (NGS) for patient cancer mutational profiling. This approach identifies driver mutations, typically non-synonymous somatic alterations altering protein coding. Recent findings suggest clinical relevance of synonymous mutations, traditionally disregarded for not altering protein sequences. Yet, their prevalence and clinical implications remain underexplored. This study analyzes genomic data and clinical outcomes for non-squamous non-small cell lung cancer patients sequenced at the Saint John Regional Hospital in New Brunswick. Canada from January 2019 to January 2023. Nine possibly pathogenic synonymous variants are identified. Additionally, the clinical variant distribution and impact of an expanded gene panel are explored. This research underscores the potential significance of synonymous mutations in cancer and expands on the current knowledge base.