| Content Provider |
Springer Nature : BioMed Central |
| Author |
Garrido, Javiera Bernal, Yanara González, Evelin Blanco, Alejandro Sepúlveda-Hermosilla, Gonzalo Freire, Matías Oróstica, Karen Rivas, Solange Marcelain, Katherine Owen, Gareth Ibañez, Carolina Corvalan, Alejandro Garrido, Marcelo Assar, Rodrigo Lizana, Rodrigo Cáceres-Molina, Javier Ampuero, Diego Ramos, Liliana Pérez, Paola Aren, Osvaldo Chernilo, Sara Fernández, Cristina Spencer, María Loreto Aguila, Jacqueline Flores Dossetto, Giuliano Bernal Olea, Mónica Ahumada Rasse, Germán Sánchez, Carolina de Amorim, Maria Galli Bartelli, Thais F. Nunes, Diana Noronha Dias-Neto, Emmanuel Freitas, Helano C. Armisén, Ricardo |
| Abstract |
Background Tobacco use is one of the main risk factors for Lung Cancer (LC) development. However, about 10–20% of those diagnosed with the disease are never-smokers. For Non-Small Cell Lung Cancer (NSCLC) there are clear differences in both the clinical presentation and the tumor genomic profiles between smokers and never-smokers. For example, the Lung Adenocarcinoma (LUAD) histological subtype in never-smokers is predominately found in young women of European, North American, and Asian descent. While the clinical presentation and tumor genomic profiles of smokers have been widely examined, never-smokers are usually underrepresented, especially those of a Latin American (LA) background. In this work, we characterize, for the first time, the difference in the genomic profiles between smokers and never-smokers LC patients from Chile. Methods We conduct a comparison by smoking status in the frequencies of genomic alterations (GAs) including somatic mutations and structural variants (fusions) in a total of 10 clinically relevant genes, including the eight most common actionable genes for LC (EGFR, KRAS, ALK, MET, BRAF, RET, ERBB2, and ROS1) and two established driver genes for malignancies other than LC (PIK3CA and MAP2K1). Study participants were grouped as either smokers (current and former, n = 473) or never-smokers (n = 200) according to self-report tobacco use at enrollment. Results Our findings indicate a higher overall GA frequency for never-smokers compared to smokers (58 vs. 45.7, p-value < 0.01) with the genes EGFR, KRAS, and PIK3CA displaying the highest prevalence while ERBB2, RET, and ROS1 the lowest. Never-smokers present higher frequencies in seven out of the 10 genes; however, smokers harbor a more complex genomic profile. The clearest differences between groups are seen for EGFR (15.6 vs. 21.5, p-value: < 0.01), PIK3CA (6.8 vs 9.5) and ALK (3.2 vs 7.5) in favor of never-smokers, and KRAS (16.3 vs. 11.5) and MAP2K1 (6.6 vs. 3.5) in favor of smokers. Alterations in these genes are comprised almost exclusively by somatic mutations in EGFR and mainly by fusions in ALK, and only by mutations in PIK3CA, KRAS and MAP2K1. Conclusions We found clear differences in the genomic landscape by smoking status in LUAD patients from Chile, with potential implications for clinical management in these limited-resource settings. |
| Related Links |
https://bmccancer.biomedcentral.com/counter/pdf/10.1186/s12885-024-12737-1.pdf |
| Ending Page |
15 |
| Page Count |
15 |
| Starting Page |
1 |
| File Format |
HTM / HTML |
| ISSN |
14712407 |
| DOI |
10.1186/s12885-024-12737-1 |
| Journal |
BMC Cancer |
| Issue Number |
1 |
| Volume Number |
24 |
| Language |
English |
| Publisher |
BioMed Central |
| Publisher Date |
2024-08-03 |
| Access Restriction |
Open |
| Subject Keyword |
Cancer Research Oncology Surgical Oncology Health Promotion and Disease Prevention Biomedicine Medicine Public Health Lung Adenocarcinoma Chilean Tobacco consumption Latin American populations EGFR mutation KRAS MAP2K1 Cancer disparities Medicine/Public Health |
| Content Type |
Text |
| Resource Type |
Article |
| Subject |
Cancer Research Oncology Genetics |
| Journal Impact Factor |
3.4/2023 |
| 5-Year Journal Impact Factor |
3.8/2023 |
