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Protein-altering ge...
Protein-altering germline mutations implicate novel genes related to lung cancer development
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- Ji, Xuemei (author)
- Dartmouth College
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Mukherjee, Semanti (author)
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Landi, Maria Teresa (author)
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Bosse, Yohan (author)
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Joubert, Philippe (author)
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Zhu, Dakai (author)
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Gorlov, Ivan (author)
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Xiao, Xiangjun (author)
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Han, Younghun (author)
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Gorlova, Olga (author)
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Hung, Rayjean J. (author)
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Brhane, Yonathan (author)
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Carreras-Torres, Robert (author)
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Christiani, David C. (author)
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Caporaso, Neil (author)
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Johansson, Mattias (author)
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Liu, Geoffrey (author)
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Bojesen, Stig E. (author)
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Le Marchand, Loic (author)
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Albanes, Demetrios (author)
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Bickeboeller, Heike (author)
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Aldrich, Melinda C. (author)
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Bush, William S. (author)
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Tardon, Adonina (author)
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Rennert, Gad (author)
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Chen, Chu (author)
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Byun, Jinyoung (author)
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Dragnev, Konstantin H. (author)
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Field, John K. (author)
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Kiemeney, Lambertus F. A. (author)
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Lazarus, Philip (author)
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Zienolddiny, Shan (author)
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Lam, Stephen (author)
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Schabath, Matthew B. (author)
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Andrew, Angeline S. (author)
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Bertazzi, Pier A. (author)
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Pesatori, Angela C. (author)
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Diao, Nancy (author)
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Su, Li (author)
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Song, Lei (author)
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Zhang, Ruyang (author)
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Leighl, Natasha (author)
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Johansen, Jakob S. (author)
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Mellemgaard, Anders (author)
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Saliba, Walid (author)
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Haiman, Christopher (author)
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Wilkens, Lynne (author)
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Fernandez-Somoano, Ana (author)
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Fernandez-Tardon, Guillermo (author)
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van der Heijden, Erik H. F. M. (author)
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Kim, Jin Hee (author)
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Davies, Michael P. A. (author)
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Marcus, Michael W. (author)
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- Brunnström, Hans (author)
- 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 Environments
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- Manjer, Jonas (author)
- Lund University,Lunds universitet,Kirurgi,Forskargrupper vid Lunds universitet,Surgery,Lund University Research Groups
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- Melander, Olle (author)
- Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
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Muller, David C. (author)
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- Overvad, Kim (author)
- Lund University
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Trichopoulou, Antonia (author)
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Tumino, Rosario (author)
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Goodman, Gary E. (author)
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Cox, Angela (author)
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Taylor, Fiona (author)
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Woll, Penella (author)
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Wichmann, Erich (author)
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Muley, Thomas (author)
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Risch, Angela (author)
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Rosenberger, Albert (author)
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- Grankvist, Kjell (author)
- Umeå universitet,Klinisk kemi
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- Johansson, Mikael (author)
- Umeå universitet,Onkologi
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Tsao, Ming-Sound (author)
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Shepherd, Frances (author)
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Arnold, Susanne M. (author)
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Haura, Eric B. (author)
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Bolca, Ciprian (author)
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Holcatova, Ivana (author)
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Janout, Vladimir (author)
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Kontic, Milica (author)
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Lissowska, Jolanta (author)
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Mukeria, Anush (author)
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Ognjanovic, Simona (author)
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Orlowski, Tadeusz M. (author)
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Scelo, Ghislaine (author)
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Swiatkowska, Beata (author)
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Zaridze, David (author)
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Bakke, Per (author)
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Skaug, Vidar (author)
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Butler, Lesley M. (author)
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Offit, Kenneth (author)
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Srinivasan, Preethi (author)
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Bandlamudi, Chaitanya (author)
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Hellmann, Matthew D. (author)
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Solit, David B. (author)
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Robson, Mark E. (author)
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Rudin, Charles M. (author)
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Stadler, Zsofia K. (author)
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Taylor, Barry S. (author)
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Berger, Michael F. (author)
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Houlston, Richard (author)
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McLaughlin, John (author)
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Stevens, Victoria (author)
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Nickle, David C. (author)
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Obeidat, 'en (author)
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Timens, Wim (author)
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Artigas, Maria Soler (author)
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Shete, Sanjay (author)
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Brenner, Hermann (author)
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Chanock, Stephen (author)
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Brennan, Paul (author)
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McKay, James D. (author)
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- Amos, Christopher, I (author)
- Baylor College of Medicine
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(creator_code:org_t)
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et al
- 2020-05-11
- 2020
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
- Related links:
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https://umu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- allele
- cancer
- gene expression
- genetic analysis
- health risk
- heterozygosity
- mutation
- tumor
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Ji, Xuemei
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Mukherjee, Seman ...
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Landi, Maria Ter ...
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Bosse, Yohan
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Joubert, Philipp ...
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Zhu, Dakai
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show more...
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Gorlov, Ivan
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Xiao, Xiangjun
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Han, Younghun
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Gorlova, Olga
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Hung, Rayjean J.
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Brhane, Yonathan
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Carreras-Torres, ...
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Christiani, Davi ...
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Caporaso, Neil
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Johansson, Matti ...
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Liu, Geoffrey
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Bojesen, Stig E.
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Le Marchand, Loi ...
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Albanes, Demetri ...
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Bickeboeller, He ...
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Aldrich, Melinda ...
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Bush, William S.
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Tardon, Adonina
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Rennert, Gad
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Chen, Chu
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Byun, Jinyoung
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Dragnev, Konstan ...
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Field, John K.
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Kiemeney, Lamber ...
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Lazarus, Philip
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Zienolddiny, Sha ...
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Lam, Stephen
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Schabath, Matthe ...
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Andrew, Angeline ...
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Bertazzi, Pier A ...
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Pesatori, Angela ...
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Diao, Nancy
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Su, Li
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Song, Lei
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Zhang, Ruyang
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Leighl, Natasha
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Johansen, Jakob ...
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Mellemgaard, And ...
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Saliba, Walid
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Haiman, Christop ...
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Wilkens, Lynne
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Fernandez-Somoan ...
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Fernandez-Tardon ...
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van der Heijden, ...
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Kim, Jin Hee
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Davies, Michael ...
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Marcus, Michael ...
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Brunnström, Hans
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Manjer, Jonas
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Melander, Olle
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Muller, David C.
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Overvad, Kim
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Trichopoulou, An ...
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Tumino, Rosario
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Goodman, Gary E.
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Cox, Angela
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Taylor, Fiona
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Woll, Penella
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Wichmann, Erich
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Muley, Thomas
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Risch, Angela
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Rosenberger, Alb ...
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Grankvist, Kjell
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Johansson, Mikae ...
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Tsao, Ming-Sound
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Shepherd, France ...
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Arnold, Susanne ...
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Haura, Eric B.
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Bolca, Ciprian
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Holcatova, Ivana
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Janout, Vladimir
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Kontic, Milica
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Lissowska, Jolan ...
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Mukeria, Anush
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Ognjanovic, Simo ...
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Orlowski, Tadeus ...
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Scelo, Ghislaine
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Swiatkowska, Bea ...
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Zaridze, David
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Bakke, Per
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Skaug, Vidar
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Butler, Lesley M ...
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Offit, Kenneth
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Srinivasan, Pree ...
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Bandlamudi, Chai ...
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Hellmann, Matthe ...
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Solit, David B.
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Robson, Mark E.
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Rudin, Charles M ...
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Stadler, Zsofia ...
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Taylor, Barry S.
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Berger, Michael ...
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Houlston, Richar ...
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McLaughlin, John
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Stevens, Victori ...
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Nickle, David C.
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Obeidat, 'en
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Timens, Wim
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Artigas, Maria S ...
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Shete, Sanjay
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Brenner, Hermann
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Chanock, Stephen
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Brennan, Paul
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McKay, James D.
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Amos, Christophe ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Communica ...
- By the university
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Umeå University
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Lund University