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

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Wang, Yufei (author)

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

Article/chapterEnglish2014

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2014-06-01
Springer Science and Business Media LLC,2014
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LIBRIS-ID:oai:DiVA.org:umu-91271
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-91271URI
https://doi.org/10.1038/ng.3002DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:129272924URI

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Language:English
Summary in:English

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Correction: Wang, Y., McKay, J., Rafnar, T. et al. Correction: Corrigendum: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet 49, 651 (2017). DOI: 10.1038/ng0417-651a
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.

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Mckay, James D. (author)
Rafnar, Thorunn (author)
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, MikaelUmeå universitet,Onkologi(Swepub:umu)mijo0025 (author)
Weiderpass, ElisabeteKarolinska Institutet (author)
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)
Umeå universitetOnkologi (creator_code:org_t)

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In:Nature Genetics: Springer Science and Business Media LLC46:7, s. 736-7411061-40361546-1718

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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...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

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