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Cited by 454

The DOI matches its Crossref record; 71 of the 71 references it cites were found in a registry or an index.

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

Open access
Wang, Yufei, McKay, James D, Rafnar, Thorunn, Wang, Zhaoming, Timofeeva, Maria N, Broderick, Peter, Zong, Xuchen, Laplana, Marina, Wei, Yongyue, Han, Younghun, Lloyd, Amy, Delahaye-Sourdeix, Manon, Chubb, Daniel, Gaborieau, Valerie, Wheeler, William, Chatterjee, Nilanjan, Thorleifsson, Gudmar, Sulem, Patrick, Liu, Geoffrey, Kaaks, Rudolf, Henrion, Marc, Kinnersley, Ben, Vallée, Maxime, Le Calvez-Kelm, Florence, Stevens, Victoria L, Gapstur, Susan M, Chen, Wei V, Zaridze, David, Szeszenia-Dabrowska, Neonilia, Lissowska, Jolanta, Rudnai, Peter, Fabianova, Eleonora, Mates, Dana, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Krokan, Hans E, Gabrielsen, Maiken Elvestad, Skorpen, Frank, Vatten, Lars, Njølstad, Inger, Chen, Chu, Goodman, Gary, Benhamou, Simone, Vooder, Tonu, Välk, Kristjan, Nelis, Mari, Metspalu, Andres, Lener, Marcin, Lubiński, Jan, Johansson, Mattias, Vineis, Paolo, Agudo, Antonio, Clavel-Chapelon, Francoise, Bueno-de-Mesquita, H Bas, Trichopoulos, Dimitrios, Khaw, Kay-Tee, Johansson, Mikael, Weiderpass, Elisabete, Tjønneland, Anne, Riboli, Elio, Lathrop, Mark, Scelo, Ghislaine, Albanes, Demetrius, Caporaso, Neil E, Ye, Yuanqing, Gu, Jian, Wu, Xifeng, Spitz, Margaret R, Dienemann, Hendrik, Rosenberger, Albert, Su, Li, Matakidou, Athena, Eisen, Timothy, Stefansson, Kari, Risch, Angela, Chanock, Stephen J, Christiani, David C, Hung, Rayjean J, Brennan, Paul, Landi, Maria Teresa, Houlston, Richard S, Amos, Christopher I·2014·Nature Genetics
DOI 10.1038/ng.3002
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Abstract

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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Authors
Wang, Y., McKay, J. D., Rafnar, T., Wang, Z., Timofeeva, M. N., Broderick, P., Zong, X., Laplana, M., Wei, Y., Han, Y., Lloyd, A., Delahaye-Sourdeix, M., Chubb, D., Gaborieau, V., Wheeler, W., Chatterjee, N., Thorleifsson, G., Sulem, P., Liu, G., Kaaks, R., Henrion, M., Kinnersley, B., Vallée, M., Le Calvez-Kelm, F., Stevens, V. L., Gapstur, S. M., Chen, W. V., Zaridze, D., Szeszenia-Dabrowska, N., Lissowska, J., Rudnai, P., Fabianova, E., Mates, D., Bencko, V., Foretova, L., Janout, V., Krokan, H. E., Gabrielsen, M. E., Skorpen, F., Vatten, L., Njølstad, I., Chen, C., Goodman, G., Benhamou, S., Vooder, T., Välk, K., Nelis, M., Metspalu, A., Lener, M., Lubiński, J., Johansson, M., Vineis, P., Agudo, A., Clavel-Chapelon, F., Bueno-de-Mesquita, H. B., Trichopoulos, D., Khaw, K.-T., Johansson, M., Weiderpass, E., Tjønneland, A., Riboli, E., Lathrop, M., Scelo, G., Albanes, D., Caporaso, N. E., Ye, Y., Gu, J., Wu, X., Spitz, M. R., Dienemann, H., Rosenberger, A., Su, L., Matakidou, A., Eisen, T., Stefansson, K., Risch, A., Chanock, S. J., Christiani, D. C., Hung, R. J., Brennan, P., Landi, M. T., Houlston, R. S., & Amos, C. I.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2014-06-01
Volume
46
Issue
7
Pages
736-741
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.3002
OpenAlex
W2072881647
Cited by
454
References
71
FWCI
21.60
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. https://app.cochat.ai/papers/10.1038/ng.3002
The paper
Wang, Y., McKay, J. D., Rafnar, T., Wang, Z., Timofeeva, M. N., Broderick, P., Zong, X., Laplana, M., Wei, Y., Han, Y., Lloyd, A., Delahaye-Sourdeix, M., Chubb, D., Gaborieau, V., Wheeler, W., Chatterjee, N., Thorleifsson, G., Sulem, P., Liu, G., . . . Amos, C. I. (2014). Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nature Genetics. https://doi.org/10.1038/ng.3002

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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