Search: WFRF:(Saliba M.) > Protein-altering ge...
Fältnamn | Indikatorer | Metadata |
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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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