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@ARTICLE{Ji:154776,
      author       = {X. Ji and S. Mukherjee and M. T. Landi and Y. Bosse and P.
                      Joubert and D. Zhu and I. Gorlov and X. Xiao and Y. Han and
                      O. Gorlova and R. J. Hung and Y. Brhane and R.
                      Carreras-Torres and D. C. Christiani and N. Caporaso and M.
                      Johansson and G. Liu and S. E. Bojesen and L. Le Marchand
                      and D. Albanes and H. Bickeböller and M. C. Aldrich and W.
                      S. Bush and A. Tardon and G. Rennert and C. Chen and J. Byun
                      and K. H. Dragnev and J. K. Field and L. F. Kiemeney and P.
                      Lazarus and S. Zienolddiny and S. Lam and M. B. Schabath and
                      A. S. Andrew and P. A. Bertazzi and A. C. Pesatori and N.
                      Diao and L. Su and L. Song and R. Zhang and N. Leighl and J.
                      S. Johansen and A. Mellemgaard and W. Saliba and C. Haiman
                      and L. Wilkens and A. Fernandez-Somoano and G.
                      Fernandez-Tardon and E. H. F. M. v. d. Heijden and J. H. Kim
                      and M. P. A. Davies and M. W. Marcus and H. Brunnström and
                      J. Manjer and O. Melander and D. C. Muller and K. Overvad
                      and A. Trichopoulou and R. Tumino and G. E. Goodman and A.
                      Cox and F. Taylor and P. Woll and E. Wichmann and T. Muley
                      and A. Risch and A. Rosenberger and K. Grankvist and M.
                      Johansson and F. Shepherd and M.-S. Tsao and S. M. Arnold
                      and E. B. Haura and C. Bolca and I. Holcatova and V. Janout
                      and M. Kontic and J. Lissowska and A. Mukeria and S.
                      Ognjanovic and T. M. Orlowski and G. Scelo and B.
                      Swiatkowska and D. Zaridze and P. Bakke and V. Skaug and L.
                      M. Butler and K. Offit and P. Srinivasan and C. Bandlamudi
                      and M. D. Hellmann and D. B. Solit and M. E. Robson and C.
                      M. Rudin and Z. K. Stadler and B. S. Taylor and M. F. Berger
                      and R. Houlston and J. McLaughlin and V. Stevens and D. C.
                      Nickle and M. Obeidat and W. Timens and M. S. Artigas and S.
                      Shete and H. Brenner$^*$ and S. Chanock and P. Brennan and
                      J. D. McKay and C. I. Amos},
      title        = {{P}rotein-altering germline mutations implicate novel genes
                      related to lung cancer development.},
      journal      = {Nature Communications},
      volume       = {11},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DKFZ-2020-01020},
      pages        = {2220},
      year         = {2020},
      abstract     = {Few germline mutations are known to affect lung cancer
                      risk. We performed analyses of rare variants from 39,146
                      individuals of European ancestry and investigated gene
                      expression levels in 7,773 samples. We find a large-effect
                      association with an ATM L2307F (rs56009889) mutation in
                      adenocarcinoma for discovery (adjusted Odds
                      Ratio = 8.82, P = 1.18 × 10-15) and replication
                      (adjusted OR = 2.93, P = 2.22 × 10-3) that is
                      more pronounced in females (adjusted OR = 6.81 and 3.19
                      and for discovery and replication). We observe an excess
                      loss of heterozygosity in lung tumors among ATM L2307F
                      allele carriers. L2307F is more frequent $(4\%)$ among
                      Ashkenazi Jewish populations. We also observe an association
                      in discovery (adjusted OR = 2.61,
                      P = 7.98 × 10-22) and replication datasets
                      (adjusted OR = 1.55, P = 0.06) with a
                      loss-of-function mutation, Q4X (rs150665432) of an
                      uncharacterized gene, KIAA0930. Our findings implicate
                      germline genetic variants in ATM with lung cancer
                      susceptibility and suggest KIAA0930 as a novel candidate
                      gene for lung cancer risk.},
      cin          = {C070},
      ddc          = {500},
      cid          = {I:(DE-He78)C070-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:32393777},
      doi          = {10.1038/s41467-020-15905-6},
      url          = {https://inrepo02.dkfz.de/record/154776},
}