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1.	Kanai, M, et al. (author) 2023 swepub:Mat__t
2.	Ji, Xuemei, et al. (author) Protein-altering germline mutations implicate novel genes related to lung cancer development 2020 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1 Journal article (peer-reviewed)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=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-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=7.98x10(-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. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
3.	2019 Journal article (peer-reviewed)

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Brown, J. (1); Clark, A. (1); Cole, S. (1); Davies, M. (1); Endo, M. (1); Erdmann, J. (1); show more...; Fox, H. (1); George, S. (1); Hasegawa, Y. (1); Hughes, G. (1); Jackson, M. (1); Jackson, P. (1); Karthik, K. (1); Kirk, J. (1); Lee, H. (1); Lewis, A. (1); Maeno, T. (1); Saleem, M. (1); Stern, S. (1); Suzuki, Y. (1); Walker, R. (1); Watts, S. (1); White, S. (1); Williams, S. (1); Willis, C. (1); Wilson, A. (1); Wright, M. (1); Wu, Y. (1); Yamada, M. (1); Nagata, K. (1); Davidson, N. (1); Dobson, E. (1); Harvey, A. (1); Lange, C. (1); Oliveira, M. (1); Owen, S. (1); Rose, A. (1); Taylor, C. (1); Williams, E. (1); Davies, E. (1); Grau, N. (1); Haider, S. (1); Ryan, P. (1); Wright, C. (1); Tokunaga, K. (1); Suzuki, S (1); Gupta, A. (1); Robinson, M. (1); Dennis, C. (1); Marshall, R. (1); show less...

University: Lund University (2); Karolinska Institutet (2); University of Gothenburg (1); Umeå University (1); Uppsala University (1); Halmstad University (1); show more...; Stockholm University (1); Chalmers University of Technology (1); show less...

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

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