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000154776 1001_ $$00000-0001-7416-9122$$aJi, Xuemei$$b0
000154776 245__ $$aProtein-altering germline mutations implicate novel genes related to lung cancer development.
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000154776 520__ $$aFew germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio = 8.82, P = 1.18 × 10-15) and replication (adjusted OR = 2.93, P = 2.22 × 10-3) that is more pronounced in females (adjusted OR = 6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR = 2.61, P = 7.98 × 10-22) and replication datasets (adjusted OR = 1.55, P = 0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk.
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000154776 7001_ $$aJoubert, Philippe$$b4
000154776 7001_ $$aZhu, Dakai$$b5
000154776 7001_ $$aGorlov, Ivan$$b6
000154776 7001_ $$aXiao, Xiangjun$$b7
000154776 7001_ $$aHan, Younghun$$b8
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000154776 7001_ $$00000-0002-4486-7496$$aHung, Rayjean J$$b10
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000154776 7001_ $$aCarreras-Torres, Robert$$b12
000154776 7001_ $$00000-0002-0301-0242$$aChristiani, David C$$b13
000154776 7001_ $$aCaporaso, Neil$$b14
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000154776 7001_ $$aAlbanes, Demetrios$$b19
000154776 7001_ $$aBickeböller, Heike$$b20
000154776 7001_ $$aAldrich, Melinda C$$b21
000154776 7001_ $$00000-0002-9729-6519$$aBush, William S$$b22
000154776 7001_ $$00000-0001-5150-1209$$aTardon, Adonina$$b23
000154776 7001_ $$00000-0002-8512-068X$$aRennert, Gad$$b24
000154776 7001_ $$aChen, Chu$$b25
000154776 7001_ $$aByun, Jinyoung$$b26
000154776 7001_ $$aDragnev, Konstantin H$$b27
000154776 7001_ $$aField, John K$$b28
000154776 7001_ $$aKiemeney, Lambertus Fa$$b29
000154776 7001_ $$aLazarus, Philip$$b30
000154776 7001_ $$aZienolddiny, Shan$$b31
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000154776 7001_ $$00000-0003-3241-3216$$aSchabath, Matthew B$$b33
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000154776 7001_ $$aSu, Li$$b38
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