Protein-altering germline mutations implicate novel genes related to lung cancer development

Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for...

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Veröffentlicht in:	Nature communications Jg. 11; H. 1; S. 2220 - 14
Hauptverfasser:	Ji, Xuemei, Mukherjee, Semanti, Landi, Maria Teresa, Bosse, Yohan, Joubert, Philippe, Zhu, Dakai, Gorlov, Ivan, Xiao, Xiangjun, Han, Younghun, Gorlova, Olga, Hung, Rayjean J., Brhane, Yonathan, Carreras-Torres, Robert, Christiani, David C., Caporaso, Neil, Johansson, Mattias, Liu, Geoffrey, Bojesen, Stig E., Le Marchand, Loic, Albanes, Demetrios, Bickeböller, Heike, Aldrich, Melinda C., Bush, William S., Tardon, Adonina, Rennert, Gad, Chen, Chu, Byun, Jinyoung, Dragnev, Konstantin H., Field, John K., Kiemeney, Lambertus FA, Lazarus, Philip, Zienolddiny, Shan, Lam, Stephen, Schabath, Matthew B., Andrew, Angeline S., Pesatori, Angela C., Diao, Nancy, Su, Li, Song, Lei, Zhang, Ruyang, Leighl, Natasha, Mellemgaard, Anders, Saliba, Walid, Haiman, Christopher, Wilkens, Lynne, Fernandez-Somoano, Ana, Heijden, Erik H. F. M. van der, Kim, Jin Hee, Davies, Michael P. A., Brunnström, Hans, Manjer, Jonas, Melander, Olle, Muller, David C., Overvad, Kim, Trichopoulou, Antonia, Tumino, Rosario, Goodman, Gary E., Cox, Angela, Taylor, Fiona, Woll, Penella, Wichmann, Erich, Muley, Thomas, Risch, Angela, Rosenberger, Albert, Grankvist, Kjell, Shepherd, Frances, Tsao, Ming-Sound, Haura, Eric B., Bolca, Ciprian, Holcatova, Ivana, Janout, Vladimir, Kontic, Milica, Lissowska, Jolanta, Mukeria, Anush, Ognjanovic, Simona, Orlowski, Tadeusz M., Scelo, Ghislaine, Swiatkowska, Beata, Bakke, Per, Butler, Lesley M., Offit, Kenneth, Srinivasan, Preethi, Bandlamudi, Chaitanya, Hellmann, Matthew D., Solit, David B., Robson, Mark E., Rudin, Charles M., Stadler, Zsofia K., Berger, Michael F., Houlston, Richard, McLaughlin, John, Stevens, Victoria, Nickle, David C., Obeidat, Ma’en, Timens, Wim, Shete, Sanjay, Brenner, Hermann, Chanock, Stephen, McKay, James D., Amos, Christopher I.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London Nature Publishing Group UK 11.05.2020 Nature Publishing Group Nature Portfolio
Schlagworte:	38 45/43 631/114 631/208 631/67 Adenocarcinoma Adenocarcinoma - genetics Aged Alleles Ataxia Telangiectasia Mutated Proteins - genetics Basic Medicine Databases, Genetic Female Gene expression Genetic diversity Genetic Predisposition to Disease Genetic variance Genotyping Techniques Germ-Line Mutation Health risk assessment Health risks Heterozygosity Heterozygote Humanities and Social Sciences Humans Jews - genetics Loss of heterozygosity Lung cancer Lung Neoplasms - genetics Male Medical and Health Sciences Medical Genetics and Genomics (including Gene Therapy) Medicin och hälsovetenskap Medicinsk genetik och genomik (Här ingår: Genterapi) Medicinska och farmaceutiska grundvetenskaper Middle Aged multidisciplinary Mutation Mutation, Missense Odds Ratio Oligonucleotide Array Sequence Analysis Pedigree Population genetics Replication Risk analysis Risk Factors RNA-Seq Science Science (multidisciplinary) Tumors White People - genetics
ISSN:	2041-1723, 2041-1723
Online-Zugang:	Volltext
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