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Autor
Amos, Christopher I 1 Anderson, Marshall 1 Bailey-Wilson, Joan 1 Brennan, Paul 1 Byun, Jinyoung 1 Cheng, Chao 1 Cho, Michael H 1 Christiani, David C 1 Davies, Michael P A 1 Field, John K 1 Gaba, Colette 1 Holcatova, Ivana 1 Hong, Wei 1 Hung, Rayjean J 1 Janout, Vladimir 1 Kheradmand, Farrah 1 Kupert, Elena 1 Li, Yafang 1 Liloglou, Triantafillos 1 Lissowska, Jolanta 1
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Pracoviště
Channing Division of Network Medicine... 1 Dan L Duncan Comprehensive Cancer Cen... 1 Department of Biomedical Data Science... 1 Department of Molecular and Human Gen... 1 Department of Pediatrics Baylor Colle... 1 Department of Thoracopulmonary Pathol... 1 Department of Translational Molecular... 1 Faculty of Health Sciences Palacky Un... 1 Harvard University T H Chan School of... 1 Institute for Clinical and Translatio... 1 Institute of Public Health and Preven... 1 International Agency for Research on ... 1 Karmanos Cancer Institute Wayne State... 1 Louisiana State University Health Sci... 1 Lunenfeld Tanenbaum Research Institut... 1 M Sklodowska Curie National Research ... 1 Mayo Clinic College of Medicine Roche... 1 Mayo Clinic College of Medicine Scott... 1 Medical College of Wisconsin Milwauke... 1 Michael E DeBakey Veterans Affairs Me... 1
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Autor
Amos, Christopher I 1 Anderson, Marshall 1 Bailey-Wilson, Joan 1 Brennan, Paul 1 Byun, Jinyoung 1 Cheng, Chao 1 Cho, Michael H 1 Christiani, David C 1 Davies, Michael P A 1 Field, John K 1 Gaba, Colette 1 Holcatova, Ivana 1 Hong, Wei 1 Hung, Rayjean J 1 Janout, Vladimir 1 Kheradmand, Farrah 1 Kupert, Elena 1 Li, Yafang 1 Liloglou, Triantafillos 1 Lissowska, Jolanta 1
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Pracoviště
Channing Division of Network Medicine... 1 Dan L Duncan Comprehensive Cancer Cen... 1 Department of Biomedical Data Science... 1 Department of Molecular and Human Gen... 1 Department of Pediatrics Baylor Colle... 1 Department of Thoracopulmonary Pathol... 1 Department of Translational Molecular... 1 Faculty of Health Sciences Palacky Un... 1 Harvard University T H Chan School of... 1 Institute for Clinical and Translatio... 1 Institute of Public Health and Preven... 1 International Agency for Research on ... 1 Karmanos Cancer Institute Wayne State... 1 Louisiana State University Health Sci... 1 Lunenfeld Tanenbaum Research Institut... 1 M Sklodowska Curie National Research ... 1 Mayo Clinic College of Medicine Roche... 1 Mayo Clinic College of Medicine Scott... 1 Medical College of Wisconsin Milwauke... 1 Michael E DeBakey Veterans Affairs Me... 1
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Nature Open Access od 2017-12-01
PubMed Central od 2017
Europe PubMed Central od 2017
ProQuest Central od 2017-01-01
Nursing & Allied Health Database (ProQuest) od 2017-01-01
Health & Medicine (ProQuest) od 2017-01-01
ROAD: Directory of Open Access Scholarly Resources od 2017
PubMed
33594163
DOI
10.1038/s41698-021-00146-7
Knihovny.cz E-zdroje
Recent studies suggest that rare variants exhibit stronger effect sizes and might play a crucial role in the etiology of lung cancers (LC). Whole exome plus targeted sequencing of germline DNA was performed on 1045 LC cases and 885 controls in the discovery set. To unveil the inherited causal variants, we focused on rare and predicted deleterious variants and small indels enriched in cases or controls. Promising candidates were further validated in a series of 26,803 LCs and 555,107 controls. During discovery, we identified 25 rare deleterious variants associated with LC susceptibility, including 13 reported in ClinVar. Of the five validated candidates, we discovered two pathogenic variants in known LC susceptibility loci, ATM p.V2716A (Odds Ratio [OR] 19.55, 95%CI 5.04-75.6) and MPZL2 p.I24M frameshift deletion (OR 3.88, 95%CI 1.71-8.8); and three in novel LC susceptibility genes, POMC c.*28delT at 3' UTR (OR 4.33, 95%CI 2.03-9.24), STAU2 p.N364M frameshift deletion (OR 4.48, 95%CI 1.73-11.55), and MLNR p.Q334V frameshift deletion (OR 2.69, 95%CI 1.33-5.43). The potential cancer-promoting role of selected candidate genes and variants was further supported by endogenous DNA damage assays. Our analyses led to the identification of new rare deleterious variants with LC susceptibility. However, in-depth mechanistic studies are still needed to evaluate the pathogenic effects of these specific alleles.
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Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.