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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer
Y. Wang, JD. McKay, T. Rafnar, Z. Wang, MN. Timofeeva, P. Broderick, X. Zong, M. Laplana, Y. Wei, Y. Han, A. Lloyd, M. Delahaye-Sourdeix, D. Chubb, V. Gaborieau, W. Wheeler, N. Chatterjee, G. Thorleifsson, P. Sulem, G. Liu, R. Kaaks, M. Henrion,...
Language English Country United States
Document type Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't
NLK
ProQuest Central
from 2000-01-01 to 1 year ago
Medline Complete (EBSCOhost)
from 1998-06-01 to 2015-11-30
Health & Medicine (ProQuest)
from 2000-01-01 to 1 year ago
Public Health Database (ProQuest)
from 2000-01-01 to 1 year ago
PubMed
24880342
DOI
10.1038/ng.3002
Knihovny.cz E-resources
- MeSH
- Adenocarcinoma genetics MeSH
- Genome-Wide Association Study MeSH
- Checkpoint Kinase 2 genetics MeSH
- Genetic Predisposition to Disease MeSH
- Polymorphism, Single Nucleotide genetics MeSH
- Humans MeSH
- Meta-Analysis as Topic MeSH
- Lung Neoplasms genetics MeSH
- Prognosis MeSH
- BRCA2 Protein genetics MeSH
- Risk Factors MeSH
- Carcinoma, Squamous Cell genetics MeSH
- Case-Control Studies MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
- Research Support, N.I.H., Intramural MeSH
We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.
] Division of Epigenomics and Cancer Risk Factors German Cancer Research Center Heidelberg Germany
] Division of Genetics and Epidemiology Institute of Cancer Research Sutton Surrey UK [2]
] Division of Genetics and Epidemiology Institute of Cancer Research Sutton Surrey UK [2] [3]
] International Agency for Research on Cancer Lyon France [2] [3]
Cancer Research UK Cambridge Institute Li Ka Shing Centre Cambridge UK
Centre d'Etude du Polymorphisme Humain Paris France
Dan L Duncan Cancer Center Baylor College of Medicine Houston Texas USA
Danish Cancer Society Research Center Copenhagen Denmark
Department of Biomedicine University of Bergen Bergen Norway
Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic
Department of Community Medicine University of Tromsø Tromsø Norway
Department of Environmental Health Harvard School of Public Health Boston Massachusetts USA
Department of Epidemiology and Biostatistics School of Public Health Imperial College London UK
Department of Epidemiology Institute of Occupational Medicine Lodz Poland
Department of Epidemiology University of Texas MD Anderson Cancer Center Houston Texas USA
Department of Genetic Epidemiology University of Göttingen Göttingen Germany
Department of Genetics University of Texas MD Anderson Cancer Center Houston Texas USA
Department of Radiation Sciences Umeå Universitet Umeå Sverige Sweden
Division of Epigenomics and Cancer Risk Factors German Cancer Research Center Heidelberg Germany
Division of Genetics and Epidemiology Institute of Cancer Research Sutton Surrey UK
eCODE Genetics Amgen Reykjavik Iceland
Epidemiology Research Program American Cancer Society Atlanta Georgia USA
Estonian Genome Center Institute of Molecular and Cell Biology Tartu Estonia
Fred Hutchinson Cancer Research Center Seattle Washington USA
Information Management Services Inc Rockville Maryland USA
Institute of Carcinogenesis Russian N N Blokhin Cancer Research Centre Moscow Russia
Institute of Molecular and Cell Biology University of Tartu Tartu Estonia
International Agency for Research on Cancer Lyon France
Lunenfeld Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada
National Institute of Environmental Health Budapest Hungary
National Institute of Public Health Bucharest Romania
Palacky University Olomouc Czech Republic
Princess Margaret Hospital University Health Network Toronto Ontario Canada
Regional Authority of Public Health Banská Bystrica Slovak Republic
The M Sklodowska Curie Memorial Cancer Center and Institute of Oncology Warsaw Poland
References provided by Crossref.org
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- $a Wang, Yufei $u 1] Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK. [2].
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- $a Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer / $c Y. Wang, JD. McKay, T. Rafnar, Z. Wang, MN. Timofeeva, P. Broderick, X. Zong, M. Laplana, Y. Wei, Y. Han, A. Lloyd, M. Delahaye-Sourdeix, D. Chubb, V. Gaborieau, W. Wheeler, N. Chatterjee, G. Thorleifsson, P. Sulem, G. Liu, R. Kaaks, M. Henrion, B. Kinnersley, M. Vallée, F. LeCalvez-Kelm, VL. Stevens, SM. Gapstur, WV. Chen, D. Zaridze, N. Szeszenia-Dabrowska, J. Lissowska, P. Rudnai, E. Fabianova, D. Mates, V. Bencko, L. Foretova, V. Janout, HE. Krokan, ME. Gabrielsen, F. Skorpen, L. Vatten, I. Njølstad, C. Chen, G. Goodman, S. Benhamou, T. Vooder, K. Välk, M. Nelis, A. Metspalu, M. Lener, J. Lubiński, M. Johansson, P. Vineis, A. Agudo, F. Clavel-Chapelon, HB. Bueno-de-Mesquita, D. Trichopoulos, KT. Khaw, M. Johansson, E. Weiderpass, A. Tjønneland, E. Riboli, M. Lathrop, G. Scelo, D. Albanes, NE. Caporaso, Y. Ye, J. Gu, X. Wu, MR. Spitz, H. Dienemann, A. Rosenberger, L. Su, A. Matakidou, T. Eisen, K. Stefansson, A. Risch, SJ. Chanock, DC. Christiani, RJ. Hung, P. Brennan, MT. Landi, RS. Houlston, CI. Amos,
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- $a We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and 38,295 controls for follow-up. We identified large-effect genome-wide associations for squamous lung cancer with the rare variants BRCA2 p.Lys3326X (rs11571833, odds ratio (OR) = 2.47, P = 4.74 × 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 × 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 × 10(-10)) and lung adenocarcinoma that had been previously reported only in Asians. These findings provide further evidence for inherited genetic susceptibility to lung cancer and its biological basis. Additionally, our analysis demonstrates that imputation can identify rare disease-causing variants with substantive effects on cancer risk from preexisting genome-wide association study data.
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