| |  Online-Ressource |
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| Verfasst von: | Minnai, Francesca [VerfasserIn]  |
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| | Noci, Sara [VerfasserIn] |
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| | Esposito, Martina [VerfasserIn] |
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| | Schneider, Marc [VerfasserIn] |
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| | Kobinger, Sonja [VerfasserIn] |
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| | Eichhorn, Martin E. [VerfasserIn] |
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| | Winter, Hauke [VerfasserIn] |
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| | Hoffmann, Hans [VerfasserIn] |
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| | Kriegsmann, Mark [VerfasserIn] |
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| | Incarbone, Matteo A. [VerfasserIn] |
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| | Mattioni, Giovanni [VerfasserIn] |
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| | Tosi, Davide [VerfasserIn] |
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| | Muley, Thomas [VerfasserIn] |
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| | Dragani, Tommaso A. [VerfasserIn] |
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| | Colombo, Francesca [VerfasserIn] |
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| Titel: | Germline polymorphisms associated with overall survival in lung adenocarcinoma |
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| Titelzusatz: | genome-wide analysis |
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| Verf.angabe: | Francesca Minnai, Sara Noci, Martina Esposito, Marc A. Schneider, Sonja Kobinger, Martin Eichhorn, Hauke Winter, Hans Hoffmann, Mark Kriegsmann, Matteo A. Incarbone, Giovanni Mattioni, Davide Tosi, Thomas Muley, Tommaso A. Dragani and Francesca Colombo |
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| E-Jahr: | 2024 |
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| Jahr: | 25 September 2024 |
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| Umfang: | 15 S. |
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| Illustrationen: | Diagramme |
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| Fussnoten: | Gesehen am 16.04.2025 |
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| Titel Quelle: | Enthalten in: Cancers |
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| Ort Quelle: | Basel : MDPI, 2009 |
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| Jahr Quelle: | 2024 |
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| Band/Heft Quelle: | 16(2024), 19, Artikel-ID 3264, Seite 1-15 |
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| ISSN Quelle: | 2072-6694 |
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| Abstract: | Background/Objectives: Lung cancer remains a global health concern, with substantial variation in patient survival. Despite advances in detection and treatment, the genetic basis for the divergent outcomes is not understood. We investigated germline polymorphisms that modulate overall survival in 1464 surgically resected lung adenocarcinoma patients. Methods: A multivariable Cox proportional hazard model was used to assess the association of more than seven million polymorphisms with overall survival at the 60-month follow-up, considering age, sex, pathological stage, decade of surgery and principal components as covariates. Genes in which variants were identified were studied in silico to investigate functional roles. Results: Six germline variants passed the genome-wide significance threshold. These single nucleotide polymorphisms were mapped to non-coding (intronic) regions on chromosomes 2, 3, and 5. The minor alleles of rs13000315, rs151212827, and rs190923216 (chr. 2, 3 and 5, respectively) were found to be independent negative prognostic factors. All six variants have been reported to regulate the expression of nine genes, seven of which are protein-coding, in different tissues. Survival-associated variants on chromosomes 2 and 3 were already reported to regulate the expression of NT5DC2 and NAGK, with high expression associated with the minor alleles. High NT5DC2 and NAGK expression in lung adenocarcinoma tissue was already shown to correlate with poor overall survival. Conclusions: This study highlights a potential regulatory role of the identified polymorphisms in influencing outcome and suggests a mechanistic link between these variants, gene expression regulation, and lung adenocarcinoma prognosis. Validation and functional studies are warranted to elucidate the mechanisms underlying these associations. |
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| DOI: | doi:10.3390/cancers16193264 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.3390/cancers16193264 |
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| | kostenfrei: Volltext: https://www.mdpi.com/2072-6694/16/19/3264 |
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| | DOI: https://doi.org/10.3390/cancers16193264 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | <i>NAGK</i> |
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| | <i>NT5DC2</i> |
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| | Cox |
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| | eQTL |
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| | GWAS |
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| | SNPs |
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| K10plus-PPN: | 1923061461 |
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| Verknüpfungen: | → Zeitschrift |
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Germline polymorphisms associated with overall survival in lung adenocarcinoma / Minnai, Francesca [VerfasserIn]; 25 September 2024 (Online-Ressource)
