ArticleRespiratory research2021
Mutational signature analysis in non-small cell lung cancer patients with a high tumor mutational burden.
Article in Respiratory research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 18 citations in OpenAlex.
- Genomic Profiling Identified a Mutational Signature Related to Female in Nonsmoking Lung Adenocarcinoma.Cancer research and treatment · 2026Article
- Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types.Nature genetics · 2026Article
- Correlation between tumor mutational burden and CT radiographic features in EGFR exon 19 deletion-mutated lung adenocarcinoma: a diagnostic accuracy study.Frontiers in medicine · 2026Article
- Association of APOBEC mutagenesis with stromal and endothelial niche remodeling and PCDH9-linked signaling alterations in colorectal cancer.Frontiers in immunology · 2026Article
- Characterization of Mutational Signatures in Tumors from a Large Chinese Population.Cancer research communications · 2025Article
- GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection.Scientific reports · 2025Article
- A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.International journal of molecular sciences · 2025Article
- Investigating the origins of the mutational signatures in cancer.Nucleic acids research · 2025Review
- Updating the genomic and clinicopathologic features of thoracic SMARCA4-deficient undifferentiated tumor: a mini-series including a long-term survivor.Frontiers in oncology · 2025Article
- Topography of mutational signatures in non-small cell lung cancer: emerging concepts, clinical applications, and limitations.The oncologist · 2024Review
- Insight into NSCLC through novel analysis of gene interactions and characteristics.American journal of clinical and experimental immunology · 2024Article
- New insights into the biology and development of lung cancer in never smokers-implications for early detection and treatment.Journal of translational medicine · 2023Review
- Tumor Mutation Signature Reveals the Risk Factors of Lung Adenocarcinoma withCancer control : journal of the Moffitt Cancer CenterArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLung cancer is the leading cause of cancer death worldwide. With the growing number of targeted therapies and the introduction of immuno-oncology (IO), personalized medicine has become standard of care in patients with metastatic disease. The development of predictive and prognostic biomarkers is of great importance. Mutational signatures harbor potential clinical value as predictors of therapy response in cancer. Here we set out to investigate particular mutational processes by assessing mutational signatures and associations with clinical features, tumor mutational burden (TMB) and targetable mutations.
methodsIn this retrospective study, we studied tumor DNA from patients with non-small cell lung cancer (NSCLC) irrespective of stage. The samples were sequenced using a 2 megabase (Mb) gene panel. On each sample TMB was determined and defined as the total number of single nucleotide mutations per Mb (mut/Mb) including non-synonymous mutations. Mutational signature profiling was performed on tumor samples in which at least 30 somatic single base substitutions (SBS) were detected.
resultsIn total 195 samples were sequenced. Median total TMB was 10.3 mut/Mb (range 0-109.3). Mutational signatures were evaluated in 76 tumor samples (39%; median TMB 15.2 mut/Mb). SBS signature 4 (SBS4), associated with tobacco smoking, was prominently present in 25 of 76 samples (33%). SBS2 and/or SBS13, both associated with activity of the AID/APOBEC family of cytidine deaminases, were observed in 11 of 76 samples (14%). SBS4 was significantly more present in early stages (I and II) versus advanced stages (III and IV; P = .005).
conclusionIn a large proportion of NSCLC patients tissue panel sequencing with a 2 Mb panel can be used to determine the mutational signatures. In general, mutational signature SBS4 was more often found in early versus advanced stages of NSCLC. Further studies are needed to determine the clinical utility of mutational signature analyses.
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