Genetics and Genomics of Lung Cancer

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (10 November 2025) | Viewed by 1503

Special Issue Editor


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Guest Editor
Cancer Genomics & Systems Biology Lab, University of Siena, Via A. Moro 2, 53100 Siena, Italy
Interests: lung; lung cancer; genetics; single-nucleotide polymorphism; liquid biopsy; cell-free DNA; circulating biomarkers
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Special Issue Information

Dear Colleagues,

Lung cancer remains the second most common type of cancer and is the leading cause of cancer death globally, with nearly 2.1 million new cases diagnosed in 2018, which accounts for approximately 12% of the cancer burden worldwide.

Research has been focused on genetics and genomics in order to improve early detection, prognosis, and personalized treatments by understanding the molecular mechanisms underlying lung cancer.

In this Special Issue, we are interested in publishing research articles and reviews focused on the intricate genetic and genomic aspects of this complex disease. In particular, submissions should explore genetic changes at the somatic or germline level, as well as the biomarkers and molecular mechanisms that are responsible for lung cancer and its prognosis or resistance to treatment.

Dr. Elisa Frullanti
Guest Editor

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Keywords

  • lung cancer
  • genetic variants
  • genomics
  • biomarkers
  • pharmacogenomics
  • targeted therapy

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Published Papers (1 paper)

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Research

14 pages, 1555 KB  
Article
Bridging East and West: Real-World Clinicogenomic Landscape of Metastatic NSCLC in Türkiye
by Kübra Canaslan, Emre Eken, Mehmet Bilici, Fahriye Merve Balcıoğlu, Banu Öztürk, Mehmet Çakmak, Öznur Bal, Görkem Turhan, Feyyaz Özdemir, Hayati Arvas, Zuhat Urakçı, Ebru Çiçek, Zeynep Hande Turna and Aziz Karaoğlu
Genes 2025, 16(12), 1446; https://doi.org/10.3390/genes16121446 - 3 Dec 2025
Viewed by 912
Abstract
Background/Objectives: Genomic profiling guides treatment in metastatic non-small-cell lung cancer (mNSCLC), yet country-level data from Türkiye remain limited. Methods: We retrospectively analyzed consecutive patients with mNSCLC diagnosed between January 2018 and March 2025 across tertiary centers in all seven regions. Variables included demographics, [...] Read more.
Background/Objectives: Genomic profiling guides treatment in metastatic non-small-cell lung cancer (mNSCLC), yet country-level data from Türkiye remain limited. Methods: We retrospectively analyzed consecutive patients with mNSCLC diagnosed between January 2018 and March 2025 across tertiary centers in all seven regions. Variables included demographics, smoking, histology, testing modality (single-gene vs. next-generation sequencing [NGS]), targetable genomic alterations (TGAs) and co-mutations, and programmed death-ligand 1 (PD-L1) tumor proportion score. Results: Among 1023 patients (mean age 64 years; 76.4% male), tobacco exposure was frequent (mean 42.1 pack-years); 16.9% were never-smokers. NGS use increased over time, exceeding 90% by 2025. TGAs were detected in 28.3% (EGFR 16.0%, ALK 5.0%, KRAS G12C 2.6%, BRAF V600E 3.2%; ROS1, MET exon 14, HER2, NTRK ≤ 2.5%; no RET). EGFR alterations occurred in 19% of non-squamous carcinomas and 6% of squamous cell carcinomas (SCCs), suggesting an intermediate East–West pattern. Among NGS-tested samples, TP53 was the most frequent co-mutation (33.1%), followed by alterations in CDKN2A, PIK3CA, FGFR, STK11, and KEAP1. Conclusions: In this large, multicenter Turkish real-world cohort, the TGA spectrum broadly mirrors global patterns while revealing local nuances; EGFR mutations were more frequent than expected in SCC, and nationwide NGS adoption is accelerating. Limitations include retrospective design, non-centralized PD-L1 testing, and missing data. Prospective, standardized studies integrating outcomes and resistance mechanisms are warranted to refine regional precision oncology. Full article
(This article belongs to the Special Issue Genetics and Genomics of Lung Cancer)
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