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Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers

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dc.contributor.authorGarrido, Javiera
dc.contributor.authorBernal, Yanara
dc.contributor.authorGonzález, Evelin
dc.contributor.authorBlanco, Alejandro
dc.contributor.authorSepúlveda, Gonzalo
dc.contributor.authorFreire, Matías
dc.contributor.authorOróstica, Karen
dc.contributor.authorRivas, Solange
dc.contributor.authorMarcelain, Katherine
dc.contributor.authorOwen, Gareth
dc.contributor.authorIbañez, Carolina
dc.contributor.authorCorvalan, Alejandro
dc.contributor.authorGarrido, Marcelo
dc.contributor.authorAssar, Rodrigo
dc.contributor.authorLizana, Rodrigo
dc.contributor.authorCáceres, Javier
dc.contributor.authorAmpuero, Diego
dc.contributor.authorRamos, Liliana
dc.contributor.authorPérez, Paola
dc.contributor.authorAren, Osvaldo
dc.contributor.authorChernilo, Sara
dc.contributor.authorFernández, Cristina
dc.contributor.authorSpencer, María
dc.contributor.authorFlores, Jacqueline
dc.contributor.authorBernal, Giuliano
dc.contributor.authorAhumada, Mónica
dc.contributor.authorRasse, Germán
dc.contributor.authorSánchez, Carolina
dc.contributor.authorDe Amorim, Maria
dc.contributor.authorBartelli, Thais
dc.contributor.authorNoronha, Diana
dc.contributor.authorDias, Emmanuel
dc.contributor.authorFreitas, Helano
dc.contributor.authorArmisén, Ricardo
dc.date.accessioned2024-09-04T16:00:59Z
dc.date.available2024-09-04T16:00:59Z
dc.date.issued2024
dc.description.abstractBackground: 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.
dc.description.versionVersión Publicada
dc.identifier.citationGarrido J, Bernal Y, González E, Blanco A, Sepúlveda-Hermosilla G, Freire M, Oróstica K, Rivas S, Marcelain K, Owen G, Ibañez C, Corvalan A, Garrido M, Assar R, Lizana R, Cáceres-Molina J, Ampuero D, Ramos L, Pérez P, Aren O, Chernilo S, Fernández C, Spencer ML, Aguila JF, Dossetto GB, Olea MA, Rasse G, Sánchez C, de Amorim MG, Bartelli TF, Nunes DN, Dias-Neto E, Freitas HC, Armisén R. Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers. BMC Cancer. 2024 Aug 3;24(1):951. doi: 10.1186/s12885-024-12737-1
dc.identifier.doihttps://doi.org/10.1186/s12885-024-12737-1
dc.identifier.urihttps://hdl.handle.net/11447/9282
dc.language.isoen
dc.subjectCancer disparities
dc.subjectChilean
dc.subjectEGFR mutation
dc.subjectKRAS
dc.subjectLatin American populations
dc.subjectLung Adenocarcinoma
dc.subjectMAP2K1
dc.subjectTobacco consumption
dc.titleBeyond tobacco: genomic disparities in lung cancer between smokers and never-smokers
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceBMC cancer
dspace.entity.typePublication

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