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Protein-altering germline mutations implicate novel genes related to lung cancer development
X. Ji, S. Mukherjee, MT. Landi, Y. Bosse, P. Joubert, D. Zhu, I. Gorlov, X. Xiao, Y. Han, O. Gorlova, RJ. Hung, Y. Brhane, R. Carreras-Torres, DC. Christiani, N. Caporaso, M. Johansson, G. Liu, SE. Bojesen, L. Le Marchand, D. Albanes, H....
Jazyk angličtina Země Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem, Research Support, U.S. Gov't, Non-P.H.S.
Grantová podpora
P50 CA119997
NCI NIH HHS - United States
P30 CA008748
NCI NIH HHS - United States
P30 CA076292
NCI NIH HHS - United States
U01 CA063464
NCI NIH HHS - United States
Wellcome Trust - United Kingdom
U01 CA209414
NCI NIH HHS - United States
R01 CA111703
NCI NIH HHS - United States
UL1 TR000117
NCATS NIH HHS - United States
WT202849/Z/16/Z
Wellcome Trust - United Kingdom
P20 CA090578
NCI NIH HHS - United States
U19 CA148127
NCI NIH HHS - United States
P20 GM103534
NIGMS NIH HHS - United States
UL1 TR000445
NCATS NIH HHS - United States
R01 CA092824
NCI NIH HHS - United States
UM1 CA164973
NCI NIH HHS - United States
U01 CA167462
NCI NIH HHS - United States
U19 CA203654
NCI NIH HHS - United States
P20 RR018787
NCRR NIH HHS - United States
Department of Health - United Kingdom
S10 RR025141
NCRR NIH HHS - United States
R01 CA074386
NCI NIH HHS - United States
R01 CA176568
NCI NIH HHS - United States
K07 CA172294
NCI NIH HHS - United States
P30 CA023108
NCI NIH HHS - United States
MOP-123369
CIHR - Canada
R01 CA063464
NCI NIH HHS - United States
P01 CA033619
NCI NIH HHS - United States
P30 CA177558
NCI NIH HHS - United States
P50 CA090578
NCI NIH HHS - United States
FDN-154294
CIHR - Canada
P50 CA070907
NCI NIH HHS - United States
U01 HG004798
NHGRI NIH HHS - United States
G0902313
Medical Research Council - United Kingdom
R01 CA151989
NCI NIH HHS - United States
UM1 CA167462
NCI NIH HHS - United States
U01 CA164973
NCI NIH HHS - United States
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- MeSH
- adenokarcinom genetika MeSH
- alely MeSH
- ATM protein genetika MeSH
- běloši genetika MeSH
- databáze genetické MeSH
- genetická predispozice k nemoci MeSH
- genotypizační techniky MeSH
- heterozygot MeSH
- lidé středního věku MeSH
- lidé MeSH
- missense mutace MeSH
- nádory plic genetika MeSH
- odds ratio MeSH
- rizikové faktory MeSH
- rodokmen MeSH
- sekvenční analýza hybridizací s uspořádaným souborem oligonukleotidů MeSH
- sekvenování transkriptomu MeSH
- senioři MeSH
- zárodečné mutace MeSH
- židé genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, U.S. Gov't, Non-P.H.S. MeSH
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 discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10-15) and replication (adjusted OR = 2.93, P = 2.22 × 10-3) that is more pronounced in females (adjusted OR = 6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR = 2.61, P = 7.98 × 10-22) and replication datasets (adjusted OR = 1.55, P = 0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk.
American Cancer Society Inc Atlanta GA USA
Biomedical Data Science Geisel School of Medicine at Dartmouth Hanover NH USA
British Columbia Cancer Agency Vancouver Canada
Cancer Registry and Histopathology Department Civic M P Arezzo Hospital Asp Ragusa Italy
Charles University 1st Faculty of Medicine Prague Czech Republic
Department of Biostatistics The University of Texas MD Anderson Cancer Center Houston TX USA
Department of Cancer Epidemiology H Lee Moffitt Cancer Center and Research Institute Tampa FL USA
Department of Clinical Science University of Bergen Bergen Norway
Department of Environmental Health Harvard T H Chan School of Public Health Boston MA USA
Department of Epidemiology Geisel School of Medicine Hanover NH USA
Department of Medical Biosciences Umeå University Umeå Sweden
Department of Medicine Memorial Sloan Kettering Cancer Center New York NY USA
Department of Oncology and Metabolism University of Sheffield Sheffield UK
Department of Pathology Lund University Lund Sweden
Department of Pathology Memorial Sloan Kettering Cancer Center New York USA
Department of Pharmaceutical Sciences College of Pharmacy Washington State University Spokane WA USA
Department of Radiation Sciences Umeå University Umeå Sweden
Department of Surgery National Tuberculosis and Lung Diseases Research Institute Warsaw Poland
Department of Thoracic Oncology H Lee Moffitt Cancer Center and Research Institute Tampa FL USA
Epidemiology Program University of Hawaii Cancer Center Honolulu HI USA
Faculty of Health Sciences Palacky University Olomouc Czech Republic
Faculty of Medicine Lund University Lund Sweden
Fred Hutchinson Cancer Research Center Seattle WA USA Swedish Medical Group Seattle WA USA
Hellenic Health Foundation Athens GR Greece
Institute of Pneumology Marius Nasta Bucharest Romania
International Agency for Research on Cancer World Health Organization Lyon France
International Organization for Cancer Prevention and Research Belgrade Serbia
IUOPA University of Oviedo and CIBERESP Faculty of Medicine Campus del Cristo s n Oviedo Spain
Lunenfeld Tanenbaum Research Institute Sinai Health System and University of Toronto Toronto Canada
Merck Research Laboratories Genetics and Pharmacogenomics Boston MA USA
National Institute of Occupational Health Oslo Norway
Nofer Institute of Occupational Medicine Department of Environmental Epidemiology Lodz Poland
Princess Margaret Cancer Centre Toronto Canada
Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA
Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands
School of Public Health St Mary's Campus Imperial College London London UK
The Institute for Clinical and Translational Research Baylor College of Medicine Houston TX USA
The Institute of Cancer Research London UK
The Norris Cotton Cancer Center Dartmouth Hitchcock Medical Center Lebanon NH USA
University Health Network The Princess Margaret Cancer Centre Toronto CA USA
University of Kentucky Markey Cancer Center Lexington KY USA
University of Pittsburgh Cancer Institute Pittsburgh USA
University of Salzburg and Cancer Cluster Salzburg Salzburg Austria
Citace poskytuje Crossref.org
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- $a Protein-altering germline mutations implicate novel genes related to lung cancer development / $c X. Ji, S. Mukherjee, MT. Landi, Y. Bosse, P. Joubert, D. Zhu, I. Gorlov, X. Xiao, Y. Han, O. Gorlova, RJ. Hung, Y. Brhane, R. Carreras-Torres, DC. Christiani, N. Caporaso, M. Johansson, G. Liu, SE. Bojesen, L. Le Marchand, D. Albanes, H. Bickeböller, MC. Aldrich, WS. Bush, A. Tardon, G. Rennert, C. Chen, J. Byun, KH. Dragnev, JK. Field, LF. Kiemeney, P. Lazarus, S. Zienolddiny, S. Lam, MB. Schabath, AS. Andrew, PA. Bertazzi, AC. Pesatori, N. Diao, L. Su, L. Song, R. Zhang, N. Leighl, JS. Johansen, A. Mellemgaard, W. Saliba, C. Haiman, L. Wilkens, A. Fernandez-Somoano, G. Fernandez-Tardon, EHFMV. Heijden, JH. Kim, MPA. Davies, MW. Marcus, H. Brunnström, J. Manjer, O. Melander, DC. Muller, K. Overvad, A. Trichopoulou, R. Tumino, GE. Goodman, A. Cox, F. Taylor, P. Woll, E. Wichmann, T. Muley, A. Risch, A. Rosenberger, K. Grankvist, M. Johansson, F. Shepherd, MS. Tsao, SM. Arnold, EB. Haura, C. Bolca, I. Holcatova, V. Janout, M. Kontic, J. Lissowska, A. Mukeria, S. Ognjanovic, TM. Orlowski, G. Scelo, B. Swiatkowska, D. Zaridze, P. Bakke, V. Skaug, LM. Butler, K. Offit, P. Srinivasan, C. Bandlamudi, MD. Hellmann, DB. Solit, ME. Robson, CM. Rudin, ZK. Stadler, BS. Taylor, MF. Berger, R. Houlston, J. McLaughlin, V. Stevens, DC. Nickle, M. Obeidat, W. Timens, MS. Artigas, S. Shete, H. Brenner, S. Chanock, P. Brennan, JD. McKay, CI. Amos,
- 520 9_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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