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

@article{Wang2014RareVO,
  title={Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer},
  author={Yufei Wang and J. McKay and T. Rafnar and Z. Wang and M. Timofeeva and P. Broderick and Xuchen Zong and M. Laplana and Yongyue Wei and Younghun Han and A. Lloyd and M. Delahaye-Sourdeix and D. Chubb and V. Gaborieau and W. Wheeler and N. Chatterjee and G. Thorleifsson and P. Sulem and Geoffrey Liu and R. Kaaks and M. Henrion and B. Kinnersley and M. Vall{\'e}e and F. Le Calvez-Kelm and V. Stevens and S. Gapstur and W. Chen and D. Zaridze and Neonilia szeszenia-Dabrowska and J. Lissowska and P. Rudnai and E. Fabianova and D. Mates and V. Bencko and L. For{\'e}tova and V. Janout and H. Krokan and M. E. Gabrielsen and F. Skorpen and L. Vatten and I. Nj{\o}lstad and Chu Chen and G. Goodman and S. Benhamou and T. Vooder and Kristjan V{\"a}lk and M. Nelis and A. Metspalu and M. Lener and J. Lubiński and M. Johansson and P. Vineis and A. Agudo and F. Clavel-Chapelon and H. Bueno-De-Mesquita and D. Trichopoulos and K. Khaw and E. Weiderpass and A. Tj{\o}nneland and E. Riboli and M. Lathrop and G. Scelo and D. Albanes and N. Caporaso and Y. Ye and Jian Gu and Xifeng Wu and M. Spitz and H. Dienemann and A. Rosenberger and L. Su and A. Matakidou and T. Eisen and K. Stef{\'a}nsson and A. Risch and S. Chanock and D. Christiani and R. Hung and P. Brennan and M. Landi and R. Houlston and C. Amos},
  journal={Nature genetics},
  year={2014},
  volume={46},
  pages={736 - 741}
}
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… Expand
Fine Mapping in Chromosome 3q28 Identified Two Variants Associated with Lung Cancer Risk in Asian Population
Genome-wide association study of familial lung cancer
Rare deleterious germline variants and risk of lung cancer
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