Protein-altering germline mutations implicate novel genes related to lung cancer development

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Fältnamn	Indikatorer	Metadata
000		08499naa a2201789 4500
001		oai:DiVA.org:umu-174634
003		SwePub
008		200831s2020 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:lup.lub.lu.se:ed914309-9a0e-4d33-a474-3d89ae193fb6
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1746342 URI
024	7	a https://doi.org/10.1038/s41467-020-15905-62 DOI
024	7	a https://lup.lub.lu.se/record/ed914309-9a0e-4d33-a474-3d89ae193fb62 URI
040		a (SwePub)umud (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Ji, Xuemeiu Dartmouth College4 aut
245	1 0	a Protein-altering germline mutations implicate novel genes related to lung cancer development
264		c 2020-05-11
264	1	b Springer Science and Business Media LLC,c 2020
338		a electronic2 rdacarrier
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a allele
653		a cancer
653		a gene expression
653		a genetic analysis
653		a health risk
653		a heterozygosity
653		a mutation
653		a tumor
700	1	a Mukherjee, Semanti4 aut
700	1	a Landi, Maria Teresa4 aut
700	1	a Bosse, Yohan4 aut
700	1	a Joubert, Philippe4 aut
700	1	a Zhu, Dakai4 aut
700	1	a Gorlov, Ivan4 aut
700	1	a Xiao, Xiangjun4 aut
700	1	a Han, Younghun4 aut
700	1	a Gorlova, Olga4 aut
700	1	a Hung, Rayjean J.4 aut
700	1	a Brhane, Yonathan4 aut
700	1	a Carreras-Torres, Robert4 aut
700	1	a Christiani, David C.4 aut
700	1	a Caporaso, Neil4 aut
700	1	a Johansson, Mattias4 aut
700	1	a Liu, Geoffrey4 aut
700	1	a Bojesen, Stig E.4 aut
700	1	a Le Marchand, Loic4 aut
700	1	a Albanes, Demetrios4 aut
700	1	a Bickeboeller, Heike4 aut
700	1	a Aldrich, Melinda C.4 aut
700	1	a Bush, William S.4 aut
700	1	a Tardon, Adonina4 aut
700	1	a Rennert, Gad4 aut
700	1	a Chen, Chu4 aut
700	1	a Byun, Jinyoung4 aut
700	1	a Dragnev, Konstantin H.4 aut
700	1	a Field, John K.4 aut
700	1	a Kiemeney, Lambertus F. A.4 aut
700	1	a Lazarus, Philip4 aut
700	1	a Zienolddiny, Shan4 aut
700	1	a Lam, Stephen4 aut
700	1	a Schabath, Matthew B.4 aut
700	1	a Andrew, Angeline S.4 aut
700	1	a Bertazzi, Pier A.4 aut
700	1	a Pesatori, Angela C.4 aut
700	1	a Diao, Nancy4 aut
700	1	a Su, Li4 aut
700	1	a Song, Lei4 aut
700	1	a Zhang, Ruyang4 aut
700	1	a Leighl, Natasha4 aut
700	1	a Johansen, Jakob S.4 aut
700	1	a Mellemgaard, Anders4 aut
700	1	a Saliba, Walid4 aut
700	1	a Haiman, Christopher4 aut
700	1	a Wilkens, Lynne4 aut
700	1	a Fernandez-Somoano, Ana4 aut
700	1	a Fernandez-Tardon, Guillermo4 aut
700	1	a van der Heijden, Erik H. F. M.4 aut
700	1	a Kim, Jin Hee4 aut
700	1	a Davies, Michael P. A.4 aut
700	1	a Marcus, Michael W.4 aut
700	1	a Brunnström, Hansu Lund University,Lunds universitet,Förbättrad diagnostik och prognostik vid lungcancer och metastaser till lunga,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Improved diagnostics and prognostics of lung cancer and metastases to the lungs,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments4 aut0 (Swepub:lu)med-hsb
700	1	a Manjer, Jonasu Lund University,Lunds universitet,Kirurgi,Forskargrupper vid Lunds universitet,Surgery,Lund University Research Groups4 aut0 (Swepub:lu)smi-jma
700	1	a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome
700	1	a Muller, David C.4 aut
700	1	a Overvad, Kimu Lund University4 aut
700	1	a Trichopoulou, Antonia4 aut
700	1	a Tumino, Rosario4 aut
700	1	a Goodman, Gary E.4 aut
700	1	a Cox, Angela4 aut
700	1	a Taylor, Fiona4 aut
700	1	a Woll, Penella4 aut
700	1	a Wichmann, Erich4 aut
700	1	a Muley, Thomas4 aut
700	1	a Risch, Angela4 aut
700	1	a Rosenberger, Albert4 aut
700	1	a Grankvist, Kjellu Umeå universitet,Klinisk kemi4 aut0 (Swepub:umu)kjgr0002
700	1	a Johansson, Mikaelu Umeå universitet,Onkologi4 aut0 (Swepub:umu)mijo0025
700	1	a Tsao, Ming-Sound4 aut
700	1	a Shepherd, Frances4 aut
700	1	a Arnold, Susanne M.4 aut
700	1	a Haura, Eric B.4 aut
700	1	a Bolca, Ciprian4 aut
700	1	a Holcatova, Ivana4 aut
700	1	a Janout, Vladimir4 aut
700	1	a Kontic, Milica4 aut
700	1	a Lissowska, Jolanta4 aut
700	1	a Mukeria, Anush4 aut
700	1	a Ognjanovic, Simona4 aut
700	1	a Orlowski, Tadeusz M.4 aut
700	1	a Scelo, Ghislaine4 aut
700	1	a Swiatkowska, Beata4 aut
700	1	a Zaridze, David4 aut
700	1	a Bakke, Per4 aut
700	1	a Skaug, Vidar4 aut
700	1	a Butler, Lesley M.4 aut
700	1	a Offit, Kenneth4 aut
700	1	a Srinivasan, Preethi4 aut
700	1	a Bandlamudi, Chaitanya4 aut
700	1	a Hellmann, Matthew D.4 aut
700	1	a Solit, David B.4 aut
700	1	a Robson, Mark E.4 aut
700	1	a Rudin, Charles M.4 aut
700	1	a Stadler, Zsofia K.4 aut
700	1	a Taylor, Barry S.4 aut
700	1	a Berger, Michael F.4 aut
700	1	a Houlston, Richard4 aut
700	1	a McLaughlin, John4 aut
700	1	a Stevens, Victoria4 aut
700	1	a Nickle, David C.4 aut
700	1	a Obeidat, 'en4 aut
700	1	a Timens, Wim4 aut
700	1	a Artigas, Maria Soler4 aut
700	1	a Shete, Sanjay4 aut
700	1	a Brenner, Hermann4 aut
700	1	a Chanock, Stephen4 aut
700	1	a Brennan, Paul4 aut
700	1	a McKay, James D.4 aut
700	1	a Amos, Christopher, Iu Baylor College of Medicine4 aut
710	2	a Dartmouth Collegeb Förbättrad diagnostik och prognostik vid lungcancer och metastaser till lunga4 org
710	2	a et al.
773	0	t Nature Communicationsd : Springer Science and Business Media LLCg 11:1q 11:1x 2041-1723
856	4	u https://umu.diva-portal.org/smash/get/diva2:1462673/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://www.nature.com/articles/s41467-020-15905-6.pdf
856	4	u http://dx.doi.org/10.1038/s41467-020-15905-6x freey FULLTEXT
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-174634
856	4 8	u https://doi.org/10.1038/s41467-020-15905-6
856	4 8	u https://lup.lub.lu.se/record/ed914309-9a0e-4d33-a474-3d89ae193fb6

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Av författaren/redakt...: Ji, Xuemei; Mukherjee, Seman ...; Landi, Maria Ter ...; Bosse, Yohan; Joubert, Philipp ...; Zhu, Dakai; visa fler...; Gorlov, Ivan; Xiao, Xiangjun; Han, Younghun; Gorlova, Olga; Hung, Rayjean J.; Brhane, Yonathan; Carreras-Torres, ...; Christiani, Davi ...; Caporaso, Neil; Johansson, Matti ...; Liu, Geoffrey; Bojesen, Stig E.; Le Marchand, Loi ...; Albanes, Demetri ...; Bickeboeller, He ...; Aldrich, Melinda ...; Bush, William S.; Tardon, Adonina; Rennert, Gad; Chen, Chu; Byun, Jinyoung; Dragnev, Konstan ...; Field, John K.; Kiemeney, Lamber ...; Lazarus, Philip; Zienolddiny, Sha ...; Lam, Stephen; Schabath, Matthe ...; Andrew, Angeline ...; Bertazzi, Pier A ...; Pesatori, Angela ...; Diao, Nancy; Su, Li; Song, Lei; Zhang, Ruyang; Leighl, Natasha; Johansen, Jakob ...; Mellemgaard, And ...; Saliba, Walid; Haiman, Christop ...; Wilkens, Lynne; Fernandez-Somoan ...; Fernandez-Tardon ...; van der Heijden, ...; Kim, Jin Hee; Davies, Michael ...; Marcus, Michael ...; Brunnström, Hans; Manjer, Jonas; Melander, Olle; Muller, David C.; Overvad, Kim; Trichopoulou, An ...; Tumino, Rosario; Goodman, Gary E.; Cox, Angela; Taylor, Fiona; Woll, Penella; Wichmann, Erich; Muley, Thomas; Risch, Angela; Rosenberger, Alb ...; Grankvist, Kjell; Johansson, Mikae ...; Tsao, Ming-Sound; Shepherd, France ...; Arnold, Susanne ...; Haura, Eric B.; Bolca, Ciprian; Holcatova, Ivana; Janout, Vladimir; Kontic, Milica; Lissowska, Jolan ...; Mukeria, Anush; Ognjanovic, Simo ...; Orlowski, Tadeus ...; Scelo, Ghislaine; Swiatkowska, Bea ...; Zaridze, David; Bakke, Per; Skaug, Vidar; Butler, Lesley M ...; Offit, Kenneth; Srinivasan, Pree ...; Bandlamudi, Chai ...; Hellmann, Matthe ...; Solit, David B.; Robson, Mark E.; Rudin, Charles M ...; Stadler, Zsofia ...; Taylor, Barry S.; Berger, Michael ...; Houlston, Richar ...; McLaughlin, John; Stevens, Victori ...; Nickle, David C.; Obeidat, 'en; Timens, Wim; Artigas, Maria S ...; Shete, Sanjay; Brenner, Hermann; Chanock, Stephen; Brennan, Paul; McKay, James D.; Amos, Christophe ...; visa färre...

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