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Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

Wang, Yufei (author)
Mckay, James D. (author)
Rafnar, Thorunn (author)
show more...
Wang, Zhaoming (author)
Timofeeva, Maria N. (author)
Broderick, Peter (author)
Zong, Xuchen (author)
Laplana, Marina (author)
Wei, Yongyue (author)
Han, Younghun (author)
Lloyd, Amy (author)
Delahaye-Sourdeix, Manon (author)
Chubb, Daniel (author)
Gaborieau, Valerie (author)
Wheeler, William (author)
Chatterjee, Nilanjan (author)
Thorleifsson, Gudmar (author)
Sulem, Patrick (author)
Liu, Geoffrey (author)
Kaaks, Rudolf (author)
Henrion, Marc (author)
Kinnersley, Ben (author)
Vallee, Maxime (author)
LeCalvez-Kelm, Florence (author)
Stevens, Victoria L. (author)
Gapstur, Susan M. (author)
Chen, Wei V. (author)
Zaridze, David (author)
Szeszenia-Dabrowska, Neonilia (author)
Lissowska, Jolanta (author)
Rudnai, Peter (author)
Fabianova, Eleonora (author)
Mates, Dana (author)
Bencko, Vladimir (author)
Foretova, Lenka (author)
Janout, Vladimir (author)
Krokan, Hans E. (author)
Gabrielsen, Maiken Elvestad (author)
Skorpen, Frank (author)
Vatten, Lars (author)
Njolstad, Inger (author)
Chen, Chu (author)
Goodman, Gary (author)
Benhamou, Simone (author)
Vooder, Tonu (author)
Valk, Kristjan (author)
Nelis, Mari (author)
Metspalu, Andres (author)
Lener, Marcin (author)
Lubinski, Jan (author)
Johansson, Mattias (author)
Vineis, Paolo (author)
Agudo, Antonio (author)
Clavel-Chapelon, Francoise (author)
Bueno-de-Mesquita, H. Bas (author)
Trichopoulos, Dimitrios (author)
Khaw, Kay-Tee (author)
Johansson, Mikael (author)
Umeå universitet,Onkologi
Weiderpass, Elisabete (author)
Karolinska Institutet
Tjonneland, Anne (author)
Riboli, Elio (author)
Lathrop, Mark (author)
Scelo, Ghislaine (author)
Albanes, Demetrius (author)
Caporaso, Neil E. (author)
Ye, Yuanqing (author)
Gu, Jian (author)
Wu, Xifeng (author)
Spitz, Margaret R. (author)
Dienemann, Hendrik (author)
Rosenberger, Albert (author)
Su, Li (author)
Matakidou, Athena (author)
Eisen, Timothy (author)
Stefansson, Kari (author)
Risch, Angela (author)
Chanock, Stephen J. (author)
Christiani, David C. (author)
Hung, Rayjean J. (author)
Brennan, Paul (author)
Landi, Maria Teresa (author)
Houlston, Richard S. (author)
Amos, Christopher I. (author)
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 (creator_code:org_t)
2014-06-01
2014
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:7, s. 736-741
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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 x 10(-20)) and CHEK2 p.Ile157Thr (rs17879961, OR = 0.38, P = 1.27 x 10(-13)). We also showed an association between common variation at 3q28 (TP63, rs13314271, OR = 1.13, P = 7.22 x 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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By the author/editor
Wang, Yufei
Mckay, James D.
Rafnar, Thorunn
Wang, Zhaoming
Timofeeva, Maria ...
Broderick, Peter
show more...
Zong, Xuchen
Laplana, Marina
Wei, Yongyue
Han, Younghun
Lloyd, Amy
Delahaye-Sourdei ...
Chubb, Daniel
Gaborieau, Valer ...
Wheeler, William
Chatterjee, Nila ...
Thorleifsson, Gu ...
Sulem, Patrick
Liu, Geoffrey
Kaaks, Rudolf
Henrion, Marc
Kinnersley, Ben
Vallee, Maxime
LeCalvez-Kelm, F ...
Stevens, Victori ...
Gapstur, Susan M ...
Chen, Wei V.
Zaridze, David
Szeszenia-Dabrow ...
Lissowska, Jolan ...
Rudnai, Peter
Fabianova, Eleon ...
Mates, Dana
Bencko, Vladimir
Foretova, Lenka
Janout, Vladimir
Krokan, Hans E.
Gabrielsen, Maik ...
Skorpen, Frank
Vatten, Lars
Njolstad, Inger
Chen, Chu
Goodman, Gary
Benhamou, Simone
Vooder, Tonu
Valk, Kristjan
Nelis, Mari
Metspalu, Andres
Lener, Marcin
Lubinski, Jan
Johansson, Matti ...
Vineis, Paolo
Agudo, Antonio
Clavel-Chapelon, ...
Bueno-de-Mesquit ...
Trichopoulos, Di ...
Khaw, Kay-Tee
Johansson, Mikae ...
Weiderpass, Elis ...
Tjonneland, Anne
Riboli, Elio
Lathrop, Mark
Scelo, Ghislaine
Albanes, Demetri ...
Caporaso, Neil E ...
Ye, Yuanqing
Gu, Jian
Wu, Xifeng
Spitz, Margaret ...
Dienemann, Hendr ...
Rosenberger, Alb ...
Su, Li
Matakidou, Athen ...
Eisen, Timothy
Stefansson, Kari
Risch, Angela
Chanock, Stephen ...
Christiani, Davi ...
Hung, Rayjean J.
Brennan, Paul
Landi, Maria Ter ...
Houlston, Richar ...
Amos, Christophe ...
show less...
About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Cancer and Oncol ...
Articles in the publication
Nature Genetics
By the university
Umeå University
Karolinska Institutet

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