Related Experiment Video
Updated: Feb 21, 2026
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Synonymous Variants of Potential Significance Identified by a 52-Gene Clinical Sequencing Panel in Non-Small Cell
Kathleen Varty1,2,3, Leah MacLean2,4, Doha Itani5,6
1Department of Biological Sciences, University of New Brunswick, Saint John, New Brunswick, Canada.
Introduction:
Next-generation sequencing (NGS) is routinely used for lung cancer genomic profiling to identify known, actionable, non-synonymous driver mutations. Recent findings suggest that synonymous variants may also be cancer drivers.
Materials And Methods:
We analyzed genomic data and clinical outcomes for patients (n = 353) with non-small cell lung cancer (NSCLC) sequenced with the Oncomine Focus 52-gene NGS panel (ThermoFisher Scientific, Waltham, MA, USA) at the Saint John Regional Hospital in New Brunswick, Canada, from January 2019 to January 2023.
Results:
KRAS was the most commonly mutated gene in this cohort from Saint John, New Brunswick, with a higher prevalence than reported in other populations. Several novel synonymous variants were identified, including in ALK, EGFR, FGFR2, FGFR3, MYC, NF1, NRAS, and PIK3CA, with potential effects on MAPK/ERK and PI3K/AKT signaling.
Conclusion:
This cohort demonstrates both expected and distinct genomic features, including novel synonymous variants in oncogenic pathways. These findings suggest regional variation in NSCLC genomics and support further study of synonymous variants in disease progression.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
05:17Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...