Search: (WFRF:(Spurdle Amanda B.)) pers:(Spurdle Amanda B.) > A nonsynonymous pol...
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000 | 19657naa a2202461 4500 | |
001 | oai:DiVA.org:umu-60147 | |
003 | SwePub | |
008 | 121002s2012 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:bd943790-9666-435e-aed0-6c31920a495d | |
009 | oai:prod.swepub.kib.ki.se:125078511 | |
009 | oai:DiVA.org:liu-81829 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-601472 URI |
024 | 7 | a https://doi.org/10.1158/1055-9965.EPI-12-02292 DOI |
024 | 7 | a https://lup.lub.lu.se/record/30593672 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1250785112 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-818292 URI |
040 | a (SwePub)umud (SwePub)lud (SwePub)kid (SwePub)liu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Ding, Yuan Cu City Hope National Medical Centre, CA, USA,Pomeranian Medical University, Poland4 aut |
245 | 1 0 | a A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers |
264 | 1 | b American Association for Cancer Research,c 2012 |
338 | a print2 rdacarrier | |
500 | a Funding Agencies|NIH|R01CA74415P30CA033752|Israel cancer association||Mutua Madrilena Foundation||Red de Investigacion en Cancer|RD06/0020/1160|Spanish Ministry of Science and Innovation|FIS P1081120SAF2010-20493|Cancer Research UK|C1287/A10118C1287/A11990C5047/A8385|NIHR||NEYE Foundation||Clinical Genetics Branch, DCEG National Cancer Institute (NCI)||Community Oncology and Prevention Trials Program-COPTRG National Cancer Institute (NCI)||Russian Foundation for Basic Research|10-04-9211010-04-9260111-04-00227|Federal Agency for Science and Innovations|02.740.11.0780|Royal Society|JP090615|Research Council of Lithuania|LIG-19/2010|Institut Catala dOncologia (ICO)||Asociacion Espanola Contra el Cancer, Spanish Health Research Fund||Carlos III Health Institute||Catalan Health Institute||Autonomous Government of Catalonia|ISCIIIRETIC RD06/0020/1051PI10/01422PI10/314882009SGR290|American Cancer Society|120950-SIOP-06-258-06-COUN|German Cancer Aid|DKH 109076|Helsinki University Central Hospital||Academy of Finland|132473|Finnish Cancer Society||Sigrid Juselius Foundation||Canadian Institutes of Health Research||Canadian Breast Cancer Research Alliance|019511|NCI, under RFA|CA-06-503|Cancer Care Ontario|U01 CA69467|Cancer Prevention Institute of California|U01 CA69417|Columbia University|U01 CA69398|Fox Chase Cancer Center|U01 CA69631|Huntsman Cancer Institute|U01 CA69446|University of Melbourne|U01 CA69638|National Health and Medical Research Council of Australia||New South Wales Cancer Council||Victorian Health Promotion Foundation (Australia)||Victorian Breast Cancer Research Consortium||NITA|P01 CA16094R01 CA22435|National Institutes of Health|P30 CA13696P30 ES009089UL1 RR025764R01278978|National Center for Research Resources||National Center for Advancing Translational Sciences||NCI|P30 CA042014|NHMRC|145684288704454508|US NCI at the NIH|NO2-CP-11019-50N02-CP-65504|Westat, Inc.||Breast cancer Research Foundation||Komen Foundation for the Cure||Dutch Cancer Society|NKI1998-1854NKI2004-3088NKI2007-3756|ZonMW|91109024|OSU Comprehensive Cancer Center|||R01-CA083855||R01-CA102776||R01CA140323||U01CA69631||5U01CA113916| | |
520 | a BACKGROUND: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk in women carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers.METHODS: IRS1 rs1801123, rs1330645, and rs1801278 were genotyped in samples from 36 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Data were analyzed by a retrospective cohort approach modeling the associations with breast and ovarian cancer risks simultaneously. Analyses were stratified by BRCA1 and BRCA2 status and mutation class in BRCA1 carriers.RESULTS: Rs1801278 (Gly972Arg) was associated with ovarian cancer risk for both BRCA1 (HR, 1.43; 95% confidence interval (CI), 1.06-1.92; P = 0.019) and BRCA2 mutation carriers (HR, 2.21; 95% CI, 1.39-3.52, P = 0.0008). For BRCA1 mutation carriers, the breast cancer risk was higher in carriers with class II mutations than class I mutations (class II HR, 1.86; 95% CI, 1.28-2.70; class I HR, 0.86; 95%CI, 0.69-1.09; P(difference), 0.0006). Rs13306465 was associated with ovarian cancer risk in BRCA1 class II mutation carriers (HR, 2.42; P = 0.03).CONCLUSION: The IRS1 Gly972Arg single-nucleotide polymorphism, which affects insulin-like growth factor and insulin signaling, modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers and breast cancer risk in BRCA1 class II mutation carriers.Impact: These findings may prove useful for risk prediction for breast and ovarian cancers in BRCA1 and BRCA2 mutation carriers. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
653 | a amino-acid polymorphism | |
653 | a growth-factor-1 | |
653 | a genetic variation | |
653 | a insulin | |
653 | a receptor | |
653 | a expression | |
653 | a IGF | |
653 | a neoplasia | |
653 | a proteins | |
653 | a family | |
653 | a MEDICINE | |
700 | 1 | a McGuffog, Lesleyu University of Cambridge Worts Causeway, England4 aut |
700 | 1 | a Healey, Sueu Royal Brisbane Hospital, Australia4 aut |
700 | 1 | a Friedman, Eitanu Chaim Sheba Medical Centre, Israel Chaim Sheba Medical Centre, Israel Tel Aviv University, Israel4 aut |
700 | 1 | a Laitman, Yaelu Chaim Sheba Medical Centre, Israel Chaim Sheba Medical Centre, Israel Tel Aviv University, Israel4 aut |
700 | 1 | a Paluch-Shimon, Shani-u Chaim Sheba Medical Centre, Israel Chaim Sheba Medical Centre, Israel Tel Aviv University, Israel4 aut |
700 | 1 | a Kaufman, Bellau Chaim Sheba Medical Centre, Israel Chaim Sheba Medical Centre, Israel Tel Aviv University, Israel4 aut |
700 | 1 | a Liljegren, Annelieu Karolinska Institutet,Karolinska University Hospital, Sweden4 aut |
700 | 1 | a Lindblom, Annikau Karolinska Institutet,Karolinska University Hospital, Sweden4 aut |
700 | 1 | a Olsson, Håkanu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Lund Hospital, Sweden4 aut0 (Swepub:lu)onk-hol |
700 | 1 | a Kristoffersson, Ulfu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,University of Lund Hospital, Sweden4 aut0 (Swepub:lu)kgen-ukr |
700 | 1 | a Stenmark Askmalm, Marieu Östergötlands Läns Landsting,Linköpings universitet,Onkologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik4 aut0 (Swepub:liu)marst93 |
700 | 1 | a Melin, Beatriceu Umeå universitet,Onkologi,Umeå University, Sweden4 aut0 (Swepub:umu)bema0010 |
700 | 1 | a Domchek, Susan Mu University of Penn, PA, USA,Ist Oncology Veneto IOV IRCCS, Italy4 aut |
700 | 1 | a Nathanson, Katherine Lu University of Penn, PA, USA4 aut |
700 | 1 | a Rebbeck, Timothy Ru University of Penn, PA, USA4 aut |
700 | 1 | a Jakubowska, Annau Pomeranian Medical University, Poland4 aut |
700 | 1 | a Lubinski, Janu Pomeranian Medical University, Poland4 aut |
700 | 1 | a Jaworska, Katarzynau Pomeranian Medical University, Poland4 aut |
700 | 1 | a Durda, Katarzynau Pomeranian Medical University, Poland4 aut |
700 | 1 | a Gronwald, Jaceku Pomeranian Medical University, Poland4 aut |
700 | 1 | a Huzarski, Tomaszu Pomeranian Medical University, Poland4 aut |
700 | 1 | a Cybulski, Cezaryu University of Groningen, Netherlands,University of Cambridge Worts Causeway, England4 aut |
700 | 1 | a Byrski, Tomaszu Pomeranian Medical University, Poland4 aut |
700 | 1 | a Osorio, Anau Spanish National Cancer Research Centre, Spain Spanish National Cancer Research Centre, Spain Spanish Network Rare Disease CIBERER, Spain4 aut |
700 | 1 | a Cajal, Teresa Ramónyu Hospital Santa Creu and Sant Pau, Spain4 aut |
700 | 1 | a Stavropoulou, Alexandra Vu National Centre Science Research Demokritos, Greece4 aut |
700 | 1 | a Benítez, Javieru Spanish National Cancer Research Centre, Spain Spanish National Cancer Research Centre, Spain Spanish Network Rare Disease CIBERER, Spain4 aut |
700 | 1 | a Hamann, Uteu Deutsch Krebsforschungszentrum DKFZ, Germany4 aut |
700 | 1 | a Rookus, Mattiu Netherlands Cancer Institute, Netherlands4 aut |
700 | 1 | a Aalfs, Cora Mu University of Amsterdam, Netherlands4 aut |
700 | 1 | a de Lange, Judith Lu Netherlands Cancer Institute, Netherlands4 aut |
700 | 1 | a Meijers-Heijboer, Hanne E Ju Vrije University of Amsterdam Medical Centre, Netherlands,Cancer Prevent Institute Calif, CA, USA Stanford University, CA, USA Stanford Cancer Institute, CA, USA4 aut |
700 | 1 | a Oosterwijk, Jan C4 aut |
700 | 1 | a van Asperen, Christi Ju Leiden University, Netherlands4 aut |
700 | 1 | a Gómez García, Encarna Bu MUMC, Netherlands4 aut |
700 | 1 | a Hoogerbrugge, Nicolineu Radboud University of Nijmegen, Netherlands4 aut |
700 | 1 | a Jager, Agnesu Erasmus University, Netherlands4 aut |
700 | 1 | a van der Luijt, Rob Bu University of Medical Centre Utrecht, Netherlands4 aut |
700 | 1 | a Easton, Douglas Fu University of Cambridge, England4 aut |
700 | 1 | a Peock, Susanu University of Cambridge, England4 aut |
700 | 1 | a Frost, Debrau University of Cambridge, England4 aut |
700 | 1 | a Ellis, Steve Du University of Cambridge, England4 aut |
700 | 1 | a Platte, Radkau University of Cambridge, England4 aut |
700 | 1 | a Fineberg, Elenau University of Cambridge, England4 aut |
700 | 1 | a Evans, D Garethu Central Manchester University Hospital NHS Fdn Trust, England4 aut |
700 | 1 | a Lalloo, Fionau Central Manchester University Hospital NHS Fdn Trust, England4 aut |
700 | 1 | a Izatt, Louiseu Guys and St Thomas NHS Fdn Trust, England4 aut |
700 | 1 | a Eeles, Rosu Institute Cancer Research, England Royal Marsden NHS Fdn Trust, England4 aut |
700 | 1 | a Adlard, Julianu Yorkshire Regional Genet Serv, England4 aut |
700 | 1 | a Davidson, Rosemarieu Yorkhill Hospital, Scotland4 aut |
700 | 1 | a Eccles, Dianau University Hospital Southampton NHS Fdn Trust, England4 aut |
700 | 1 | a Cole, Trevoru Birmingham Womens Hospital Healthcare NHS Trust, England4 aut |
700 | 1 | a Cook, Jackieu Sheffield Childrens Hospital, England4 aut |
700 | 1 | a Brewer, Caroleu Royal Devon and Exeter Hospital, England4 aut |
700 | 1 | a Tischkowitz, Marcu University of Cambridge, England4 aut |
700 | 1 | a Godwin, Andrew Ku University of Kansas, KS, USA,Technical University of Dresden, Germany4 aut |
700 | 1 | a Pathak, Harshu University of Kansas, KS, USA4 aut |
700 | 1 | a Stoppa-Lyonnet, Dominiqueu Institute Curie, France Institute Curie, France University of Paris 05, France4 aut |
700 | 1 | a Sinilnikova, Olga Mu University of Lyon 1, France Centre Hospital University of Lyon, France4 aut |
700 | 1 | a Mazoyer, Sylvieu University of Lyon 1, France4 aut |
700 | 1 | a Barjhoux, Laureu University of Lyon 1, France4 aut |
700 | 1 | a Léoné, Mélanieu Centre Hospital University of Lyon, France4 aut |
700 | 1 | a Gauthier-Villars, Marionu Institute Curie, France4 aut |
700 | 1 | a Caux-Moncoutier, Virginieu Institute Curie, France4 aut |
700 | 1 | a de Pauw, Antoineu Institute Curie, France4 aut |
700 | 1 | a Hardouin, Agnèsu Centre Francois Baclesse, France4 aut |
700 | 1 | a Berthet, Pascalineu Centre Francois Baclesse, France4 aut |
700 | 1 | a Dreyfus, Hélèneu CHU Grenoble, France University of Grenoble, France4 aut |
700 | 1 | a Ferrer, Sandra Fertu Hotel Dieu Centre Hospital, France4 aut |
700 | 1 | a Collonge-Rame, Marie-Agnèsu CHU Besancon, France4 aut |
700 | 1 | a Sokolowska, Johannau Nancy University, France4 aut |
700 | 1 | a Buys, Saundrau University of Utah, UT, USA4 aut |
700 | 1 | a Daly, Maryu Fox Chase Cancer Centre, PA, USA4 aut |
700 | 1 | a Miron, Alexu Dana Farber Cancer Institute, MA, USA4 aut |
700 | 1 | a Terry, Mary Bethu Columbia University, NY, USA4 aut |
700 | 1 | a Chung, Wendyu Columbia University, NY, USA4 aut |
700 | 1 | a John, Esther M4 aut |
700 | 1 | a Southey, Melissau University of Melbourne, Australia4 aut |
700 | 1 | a Goldgar, Davidu University of Utah, UT, USA4 aut |
700 | 1 | a Singer, Christian Fu Medical University of Vienna, Austria4 aut |
700 | 1 | a Tea, Muy-Kheng Mariau Medical University of Vienna, Austria4 aut |
700 | 1 | a Gschwantler-Kaulich, Daphneu Medical University of Vienna, Austria4 aut |
700 | 1 | a Fink-Retter, Annelieseu Medical University of Vienna, Austria4 aut |
700 | 1 | a Hansen, Thomas V Ou Copenhagen University Hospital, Denmark4 aut |
700 | 1 | a Ejlertsen, Bentu Copenhagen University Hospital, Denmark4 aut |
700 | 1 | a Johannsson, Oskar Tu Landspitali University Hospital, Iceland University of Iceland, Iceland4 aut |
700 | 1 | a Offit, Kennethu Clin Cancer Genet Lab, NY, USA4 aut |
700 | 1 | a Sarrel, Karau Clin Cancer Genet Lab, NY, USA4 aut |
700 | 1 | a Gaudet, Mia Mu Amer Cancer Soc, GA, USA4 aut |
700 | 1 | a Vijai, Josephu Clin Cancer Genet Lab, NY, USA4 aut |
700 | 1 | a Robson, Marku Mem Sloan Kettering Cancer Centre, NY, USA4 aut |
700 | 1 | a Piedmonte, Marion Ru Roswell Pk Cancer Institute, NY, USA4 aut |
700 | 1 | a Andrews, Lesleyu Australia New Zealand Gynaecol Oncology Grp, Australia4 aut |
700 | 1 | a Cohn, Davidu Ohio State University, OH, USA4 aut |
700 | 1 | a Demars, Leslie Ru Dartmouth Hitchcock Medical Centre, NH, USA4 aut |
700 | 1 | a Disilvestro, Paulu Brown University, RI, USA4 aut |
700 | 1 | a Rodriguez, Gustavou NorthShore University of Health Syst, IL, USA4 aut |
700 | 1 | a Toland, Amanda Ewartu Ohio State University, OH, USA Ohio State University, OH, USA4 aut |
700 | 1 | a Montagna, Marco4 aut |
700 | 1 | a Agata, Simonau Ist Oncology Veneto IOV IRCCS, Italy4 aut |
700 | 1 | a Imyanitov, Evgenyu NN Petrov Oncology Research Institute, Russia4 aut |
700 | 1 | a Isaacs, Claudineu Georgetown University, DC, USA4 aut |
700 | 1 | a Janavicius, Ramunasu Vilnius University Hospital, Lithuania,University of So Calif, CA, USA4 aut |
700 | 1 | a Lazaro, Conxiu Institute Catala Oncol, Spain4 aut |
700 | 1 | a Blanco, Ignaciou IDIBELL Catalan Institute Oncol, Spain4 aut |
700 | 1 | a Ramus, Susan J4 aut |
700 | 1 | a Sucheston, Larau Roswell Pk Cancer Institute, NY, USA4 aut |
700 | 1 | a Karlan, Beth Yu Cedars Sinai Medical Centre, CA, USA4 aut |
700 | 1 | a Gross, Jennyu Cedars Sinai Medical Centre, CA, USA4 aut |
700 | 1 | a Ganz, Patricia Au University of Calif Los Angeles, CA, USA4 aut |
700 | 1 | a Beattie, Mary Su University of Calif San Francisco, CA, USA4 aut |
700 | 1 | a Schmutzler, Rita Ku University Hospital Cologne, Germany4 aut |
700 | 1 | a Wappenschmidt, Barbarau University Hospital Cologne, Germany4 aut |
700 | 1 | a Meindl, Alfonsu Technical University of Munich, Germany4 aut |
700 | 1 | a Arnold, Norbertu University of Kiel, Germany4 aut |
700 | 1 | a Niederacher, Dieteru University of Dusseldorf, Germany4 aut |
700 | 1 | a Preisler-Adams, Sabineu University of Munster, Germany4 aut |
700 | 1 | a Gadzicki, Doroteheau Hannover Medical Sch, Germany4 aut |
700 | 1 | a Varon-Mateeva, Raymondau Charite, Germany4 aut |
700 | 1 | a Deissler, Helmutu University Hospital Ulm, Germany4 aut |
700 | 1 | a Gehrig, Andreau University of Wurzburg, Germany4 aut |
700 | 1 | a Sutter, Christianu University of Heidelberg Hospital, Germany4 aut |
700 | 1 | a Kast, Karin4 aut |
700 | 1 | a Nevanlinna, Heliu University of Helsinki, Finland4 aut |
700 | 1 | a Aittomäki, Kristiinau Centre Hospital University of Quebec, Canada University of Laval, Canada4 aut |
700 | 1 | a Simard, Jacques4 aut |
700 | 1 | a Spurdle, Amanda Bu Royal Brisbane Hospital, Australia4 aut |
700 | 1 | a Beesley, Jonathanu Royal Brisbane Hospital, Australia4 aut |
700 | 1 | a Chen, Xiaoqingu Royal Brisbane Hospital, Australia4 aut |
700 | 1 | a Tomlinson, Gail Eu University of Texas Health Science Centre San Antonio, TX, USA4 aut |
700 | 1 | a Weitzel, Jeffreyu City Hope National Medical Centre, CA, USA4 aut |
700 | 1 | a Garber, Judy Eu Harvard University, MA, USA4 aut |
700 | 1 | a Olopade, Olufunmilayo Iu University of Chicago, IL, USA4 aut |
700 | 1 | a Rubinstein, Wendy Su NorthShore University of HealthSyst, IL, USA4 aut |
700 | 1 | a Tung, Nadineu Beth Israel Deaconess Medical Centre, MA, USA4 aut |
700 | 1 | a Blum, Joanne Lu Baylor Charles A Sammons Cancer Centre, TX, USA4 aut |
700 | 1 | a Narod, Steven Au Womens Coll Hospital, Canada4 aut |
700 | 1 | a Brummel, Seanu Harvard University, MA, USA4 aut |
700 | 1 | a Gillen, Daniel Lu University of Calif Irvine, CA USA4 aut |
700 | 1 | a Lindor, Noralaneu Mayo Clin, MN, USA4 aut |
700 | 1 | a Fredericksen, Zacharyu Mayo Clin, MN, USA4 aut |
700 | 1 | a Pankratz, Vernon Su Mayo Clin, MN, USA4 aut |
700 | 1 | a Couch, Fergus Ju Mayo Clin, MN, USA4 aut |
700 | 1 | a Radice, Paolou Fdn IRCCS Ist Nazl Tumori INT, Italy Fdn Ist FIRC Oncology Mol, Italy4 aut |
700 | 1 | a Peterlongo, Paolou Fdn IRCCS Ist Nazl Tumori INT, Italy Fdn Ist FIRC Oncology Mol, Italy4 aut |
700 | 1 | a Greene, Mark Hu NCI, MD, USA4 aut |
700 | 1 | a Loud, Jennifer Tu NCI, MD, USA4 aut |
700 | 1 | a Mai, Phuong Lu NCI, MD, USA4 aut |
700 | 1 | a Andrulis, Irene Lu University of Toronto, Canada4 aut |
700 | 1 | a Glendon, Gordu University of Toronto, Canada4 aut |
700 | 1 | a Ozcelik, Hilmi4 aut |
700 | 1 | a Gerdes, Anne-Marieu Odense University Hospital, Denmark4 aut |
700 | 1 | a Thomassen, Mads4 aut |
700 | 1 | a Jensen, Uffe Birku Skejby Hospital, Denmark4 aut |
700 | 1 | a Skytte, Anne-Bineu Vejle Hospital, Denmark4 aut |
700 | 1 | a Caligo, Maria Au University of Pisa, Italy University Hospital Pisa, Italy4 aut |
700 | 1 | a Lee, Andrewu University of Cambridge Worts Causeway, England4 aut |
700 | 1 | a Chenevix-Trench, Georgiau Royal Brisbane Hospital, Australia4 aut |
700 | 1 | a Antoniou, Antonis C4 aut |
700 | 1 | a Neuhausen, Susan Lu City Hope National Medical Centre, CA, USA4 aut |
710 | 2 | a City Hope National Medical Centre, CA, USAb Pomeranian Medical University, Poland4 org |
773 | 0 | t Cancer Epidemiology, Biomarkers and Preventiond : American Association for Cancer Researchg 21:8, s. 1362-1370q 21:8<1362-1370x 1055-9965x 1538-7755 |
856 | 4 | u http://dx.doi.org/10.1158/1055-9965.EPI-12-0229y FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-60147 |
856 | 4 8 | u https://doi.org/10.1158/1055-9965.EPI-12-0229 |
856 | 4 8 | u https://lup.lub.lu.se/record/3059367 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:125078511 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-81829 |
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