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المؤلفKumar S, Udhaya
المؤلفBalasundaram, Ambritha
المؤلفCathryn R, Hephzibah
المؤلفVarghese, Rinku Polachirakkal
المؤلفR, Siva
المؤلفR, Gnanasambandan
المؤلفYounes, Salma
المؤلفZayed, Hatem
المؤلفDoss C, George Priya
تاريخ الإتاحة2022-12-15T08:24:44Z
تاريخ النشر2022
اسم المنشورComputers in Biology and Medicine
المصدرScopus
معرّف المصادر الموحدhttp://dx.doi.org/10.1016/j.compbiomed.2022.105701
معرّف المصادر الموحدhttp://hdl.handle.net/10576/37346
الملخصBackground: Non-small-cell lung cancer (NSCLC) is the most common type of lung cancer. NSCLC accounts for 84% of all lung cancer cases. In recent years, advances in pathway understanding, methods for discovering novel genetic biomarkers, and new drugs designed to inhibit the signaling cascades have enabled clinicians to personalize therapy for NSCLC. Objectives: The primary aim of this study is to identify the genes associated with NSCLC that harbor pathogenic variants that could be causative for NSCLC. The second aim is to investigate their roles in different pathways that lead to NSCLC. Methods: We examined exome-sequencing datasets from 54 NSCLC patients to characterize the variants associated with NSCLC. Results: Our findings revealed that 17 variants in 14 genes were considered highly pathogenic, including CDKN2A, ERBB2, FOXP1, IDH1, JAK3, KMT2D, K-Ras, MSH3, MSH6, POLE, RNF43, TCF7L2, TP53, and TSC1. Gene set enrichment analysis revealed the involvement of transmembrane receptor protein tyrosine kinase activity, protein binding, ATP binding, phosphatidylinositol-4,5-bisphosphate 3-kinase, and Ras guanyl-nucleotide exchange factor activity. Pathway analysis of these genes yielded different cancer-related pathways, including colorectal, prostate, endometrial, pancreatic, PI3K-Akt signaling pathways, and signaling pathways regulating pluripotency of stem cells. Module 1 from protein-protein interactions (PPIs) identified genes that harbor pathogenic SNPs. Three of the most deleterious SNPs are ERBB2 (rs1196929947), K-Ras (rs121913529), and POLE (rs751425952). Interestingly, one patient has a pathogenic K-Ras variant (rs121913529) co-occurred with the missense variant (rs752054698) inTSC1 gene. Conclusion: This study maps highly pathogenic variants associated with NSCLC and investigates their contributions to the pathogenesis of NSCLC. This study sheds light on the potential applications of precision medicine in patients with NSCLC. 2022 Elsevier Ltd
راعي المشروعThe authors would like to take this opportunity to thank the management of Vellore Institute of Technology (VIT), Vellore, Tamil Nadu, India, and Qatar University, Doha, Qatar, for providing the necessary facilities and encouragement to carry out this work.
اللغةen
الناشرElsevier
الموضوعNon-small cell lung cancer
Non-synonymous single nucleotide polymorphisms
Pathogenic variants
Pathway enrichment analysis
PPI network
Precision medicine
Whole-exome sequencing
العنوانWhole-exome sequencing analysis of NSCLC reveals the pathogenic missense variants from cancer-associated genes
النوعArticle
رقم المجلد148
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