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Updated: Sep 6, 2025

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
07:59

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

1.2K

Whole-exome sequencing analysis of NSCLC reveals the pathogenic missense variants from cancer-associated genes

Udhaya Kumar S1, Ambritha Balasundaram1, Hephzibah Cathryn R1

  • 1Laboratory of Integrative Genomics, Department of Integrative Biology, School of Biosciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, 632014, India.

Computers in Biology and Medicine
|June 26, 2022
PubMed
Abstract

Insights

This study identified 17 highly pathogenic variants in 14 genes linked to non-small-cell lung cancer (NSCLC). These findings advance understanding of NSCLC pathogenesis and support precision medicine approaches.

Area of Science:

  • Genomics
  • Oncology
  • Molecular Biology

Background:

  • Non-small-cell lung cancer (NSCLC) is the predominant form of lung cancer, accounting for 84% of cases.
  • Recent advancements in understanding cancer pathways, identifying genetic biomarkers, and developing targeted therapies have paved the way for personalized NSCLC treatment.

Purpose of the Study:

  • To identify genes associated with NSCLC that harbor pathogenic variants potentially causing the disease.
  • To investigate the roles of these identified genes and their variants in various NSCLC-related pathways.

Main Methods:

  • Exome sequencing data from 54 NSCLC patients were analyzed to identify associated variants.
  • Gene set enrichment analysis and pathway analysis were performed to understand the functional roles of identified genes.
  • Protein-protein interaction (PPI) analysis was utilized to identify genes with pathogenic single nucleotide polymorphisms (SNPs).

Main Results:

  • Seventeen highly pathogenic variants were identified across 14 genes, including CDKN2A, ERBB2, K-Ras, and TP53.
  • Enrichment analysis highlighted involvement in transmembrane receptor protein tyrosine kinase activity, ATP binding, and PI3K-Akt signaling pathways.
  • Three deleterious SNPs (ERBB2, K-Ras, POLE) were noted, with one patient exhibiting co-occurring pathogenic variants in K-Ras and TSC1.

Conclusions:

  • This research maps key pathogenic variants in NSCLC, elucidating their contribution to disease development.
  • The findings underscore the potential for precision medicine strategies in managing NSCLC patients based on their genetic profiles.
Keywords:
Non-small cell lung cancerNon-synonymous single nucleotide polymorphismsPPI networkPathogenic variantsPathway enrichment analysisPrecision medicineWhole-exome sequencing

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