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FältnamnIndikatorerMetadata
00019345naa a2201657 4500
001oai:DiVA.org:uu-345216
003SwePub
008180309s2017 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:137557834
024a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3452162 URI
024a https://doi.org/10.18632/oncotarget.218002 DOI
024a http://kipublications.ki.se/Default.aspx?queryparsed=id:1375578342 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Jiao, Xiangu Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
2451 0a PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1
264 c 2017-10-12
264 1b IMPACT JOURNALS LLC,c 2017
338 a electronic2 rdacarrier
520 a Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent genome-wide linkage analysis studies suggested a 3 Mb locus on chromosome 6q and two unrelated Swedish families with a LOD > 2 together seemed to share a haplotype in 6q14.1. We hypothesized that this region harbored a rare high-risk founder allele contributing to breast cancer in these two families. Sequencing of DNA and RNA from the two families did not detect any pathogenic mutations. Finally, 29 SNPs in the region were analyzed in 44,214 cases and 43,532 controls from BCAC, and the original haplotypes in the two families were suggested as low-risk alleles for European and Swedish women specifically. There was also some support for one additional independent moderate-risk allele in Swedish familial samples. The results were consistent with our previous findings in familial breast cancer and supported a breast cancer susceptibility locus at 6q14.1 around the PHIP gene.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
650 7a NATURVETENSKAPx Biologix Cellbiologi0 (SwePub)106042 hsv//swe
650 7a NATURAL SCIENCESx Biological Sciencesx Cell Biology0 (SwePub)106042 hsv//eng
653 a familial breast cancer
653 a linkage analysis
653 a risk haplotype
653 a sequencing
700a Aravidis, Christosu Uppsala universitet,Medicinsk genetik och genomik,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut0 (Swepub:uu)chrar109
700a Marikkannu, Rajeshwariu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Rantala, Johannau Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Picelli, Simoneu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Adamovic, Tatjanau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Liu, Taou Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Maguire, Paulau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Kremeyer, Barbarau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Luo, Lipingu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.,Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada.,Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.,Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.,Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA.4 aut
700a Von Holst, Susannau Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Kontham, Vinaykumaru Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Thutkawkorapin, Jessadau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Margolin, Sarau Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.4 aut
700a Du, Quanu Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Lundin, Johannau Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
700a Michailidou, Kyriakiu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Cyprus Inst Neurol & Genet, Dept Elect Microscopy Mol Pathol, Nicosia, Cyprus.4 aut
700a Bolla, Manjeet K.u Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Wang, Qinu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Dennis, Joeu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Lush, Michaelu Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Ambrosone, Christine B.u Roswell Pk Canc Inst, Buffalo, NY 14263 USA.,VIB, VIB Ctr Canc Biol, Leuven, Belgium.;Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium.,Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy.,Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany.4 aut
700a Andrulis, Irene L.u Karolinska Institutet4 aut
700a Anton-Culver, Hodau Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA.4 aut
700a Antonenkova, Natalia N.u NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, Byelarus.4 aut
700a Arndt, Volkeru German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.4 aut
700a Beckmann, Matthias W.u Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynaecol & Obstet, Erlangen, Germany.4 aut
700a Blomqvist, Carlu Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, Helsinki, Finland.4 aut
700a Blot, Williamu Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.;Int Epidemiol Inst, Rockville, MD USA.4 aut
700a Boeckx, Bramu VIB, VIB Ctr Canc Biol, Leuven, Belgium.;Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium.4 aut
700a Bojesen, Stig E.u Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, Herlev, Denmark.;Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark.4 aut
700a Bonanni, Bernardou Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy.4 aut
700a Brand, Judith S.u Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a Brauch, Hiltrudu Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany.;Univ Tubingen, Tubingen, Germany.;German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany.4 aut
700a Brenner, Hermannu German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.;German Canc Res Ctr, German Canc Consortium DKTK, Heidelberg, Germany.;German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany.;Natl Ctr Tumor Dis NCT, Heidelberg, Germany.4 aut
700a Broeks, Annegienu Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands.4 aut
700a Bruning, Thomasu Ruhr Univ Bochum, Inst Prevent & Occupat Med, German Social Accid Insurance, Bochum, Germany.4 aut
700a Burwinkel, Barbarau Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany.4 aut
700a Cai, Qiuyinu Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.4 aut
700a Chang-Claude, Jennyu German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany.;Univ Canc Ctr Hamburg, Univ Med Ctr Hamburg Eppendorf, Res Grp Genet Canc Epidemiol, Hamburg, Germany. Haukeland Hosp, Dept Oncol, Bergen, Norway. Univ Bergen, Inst Med, Sect Oncol, Bergen, Norway. Akershus Univ Hosp, Dept Pathol, Lorenskog, Norway. Akershus Univ Hosp, Dept Breast Endocrine Surg, Lorenskog, Norway.4 aut
700a Couch, Fergus J.u Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA.4 aut
700a Cox, Angelau Univ Sheffield, Dept Oncol & Metab, Sheffield Inst Nucle Acids SInFoNiA, Sheffield, S Yorkshire, England.4 aut
700a Cross, Simon S.u Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England.4 aut
700a Deming-Halverson, Sandra L.u Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.4 aut
700a Devilee, Peteru Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands.;Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands.,Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a dos-Santos-Silva, Isabelu London Sch Hyg & Trop Med, Dept Noncommun Dis Epidemiol, London, England.4 aut
700a Dork, Thilou Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany.4 aut
700a Eriksson, Mikaelu Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.,Inst Canc Res, Div Genet & Epidemiol, London, England.4 aut
700a Fasching, Peter A.u Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, Dept Gynaecol & Obstet, Erlangen, Germany.;Univ Calif Los Angeles, Dept Med, David Geffen Sch Med, Los Angeles, CA 90024 USA.;Univ Calif Los Angeles, Div Hematol & Oncol, Los Angeles, CA USA.4 aut
700a Figueroa, Jonineu Univ Edinburgh, Med Sch, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland.;NCI, Div Canc Epidemiol & Genet, Rockville, MD USA.4 aut
700a Flesch-Janys, Dieteru Univ Med Ctr Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany.;Univ Med Ctr Hamburg Eppendorf, Clin Canc Registry, Dept Canc Epidemiol, Hamburg, Germany.4 aut
700a Flyger, Henriku Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Breast Surg, Herlev, Denmark.4 aut
700a Gabrielson, Marikeu Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a Garcia-Closas, Montserratu NCI, Div Canc Epidemiol & Genet, Rockville, MD USA.4 aut
700a Giles, Graham G.u Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.4 aut
700a Gonzalez-Neira, Annau Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain.4 aut
700a Guenel, Pascalu Univ Paris Saclay, Univ Paris Sud, INSERM, Ctr Res Epidemiol & Populat Hlth CESP,Canc & Envi, Villejuif, France.4 aut
700a Guo, Qiu Univ Cambridge, Dept Publ Hlth & Primary Care, Cardiovasc Epidemiol Unit, Cambridge, England.4 aut
700a Gundert, Melanieu Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, C080, Heidelberg, Germany.4 aut
700a Haiman, Christopher A.u Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.4 aut
700a Hallberg, Emilyu Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.4 aut
700a Hamann, Uteu German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.4 aut
700a Harrington, Patriciau Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Hooning, Maartje J.u Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands.4 aut
700a Hopper, John L.u Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.4 aut
700a Huang, Guanmengqianu German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.4 aut
700a Jakubowska, Annau Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland.4 aut
700a Jones, Michael E.u Inst Canc Res, Div Genet & Epidemiol, London, England.4 aut
700a Kerin, Michael J.u Natl Univ Ireland, Sch Med, Galway, Ireland.4 aut
700a Kosma, Veli-Mattiu Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland.4 aut
700a Kristensen, Vessela N.u Univ Oslo, Hosp Radiumhosp, Inst Canc Res, Dept Canc Genet, Oslo, Norway. Oslo Univ Hosp, Dept Breast & Endocrine Surg, Oslo, Norway. Vestre Viken Hosp, Dept Res, Drammen, Norway. Univ Oslo, Hosp Radiumhosp, Inst Canc Res, Dept Tumor Biol, Oslo, Norway.;Univ Oslo, Fac Med, Inst Clin Med, Oslo, Norway.;Univ Oslo, Oslo Univ Hosp, Dept Clin Mol Biol, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Natl Advisory Unit Late Effects Canc Treatment, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Dept Oncol, Oslo, Norway. Univ Oslo, Hosp Radiumhosp, Dept Radiol & Nucl Med, Oslo, Norway. Oslo Univ Hosp, Oslo, Norway.4 aut
700a Lambrechts, Dietheru VIB, VIB Ctr Canc Biol, Leuven, Belgium.;Univ Leuven, Dept Human Genet, Lab Translat Genet, Leuven, Belgium.4 aut
700a Le Marchand, Loicu Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA.4 aut
700a Lubinski, Janu Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland.4 aut
700a Mannermaa, Artou Univ Eastern Finland, Translat Canc Res Area, Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio, Finland.4 aut
700a Martens, John W. M.u Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands.4 aut
700a Meindl, Alfonsu Tech Univ Munich, Div Gynaecol & Obstet, Munich, Germany.4 aut
700a Milne, Roger L.u Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic, Australia.;Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia.4 aut
700a Mulligan, Anna Marieu Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada.;Univ Hlth Network, Lab Med Program, Toronto, ON, Canada.4 aut
700a Neuhausen, Susan L.u Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA.4 aut
700a Nevanlinna, Heliu Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, Helsinki, Finland.4 aut
700a Peto, Julianu London Sch Hyg & Trop Med, Dept Noncommun Dis Epidemiol, London, England.4 aut
700a Pylkaes, Katriu Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu, Finland.4 aut
700a Radice, Paolou INT, Fdn IRCCS, Ist Ricovero Cura Carattere Sci, Dept Res, Milan, Italy.4 aut
700a Rhenius, Valerieu Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Sawyer, Elinor J.u Kings Coll London, Guys Hosp, Res Oncol, London, England.4 aut
700a Schmidt, Marjanka K.u Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, Amsterdam, Netherlands.;Antoni Leeuwenhoek Hosp, Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Amsterdam, Netherlands.4 aut
700a Schmutzler, Rita K.u Univ Hosp Cologne, Ctr Hereditary Breast & Ovarian Canc, Cologne, Germany.;Univ Hosp Cologne, Ctr Integrated Oncol, Cologne, Germany.;Univ Cologne, Ctr Mol Med Cologne, Cologne, Germany.4 aut
700a Seynaeve, Carolineu Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands.4 aut
700a Shah, Mitulu Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Simard, Jacquesu Laval Univ, Univ Quebec, Res Ctr, Ctr Hosp,Gen Ctr, Quebec City, PQ, Canada.4 aut
700a Southey, Melissa C.u Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia.4 aut
700a Swerdlow, Anthony J.u Inst Canc Res, Div Genet & Epidemiol, London, England.;Inst Canc Res, Div Breast Canc Res, London, England. Peter MacCallum Canc Ctr, Melbourne, Vic, Australia.4 aut
700a Truong, Thereseu Univ Paris Saclay, Univ Paris Sud, INSERM, Ctr Res Epidemiol & Populat Hlth CESP,Canc & Envi, Villejuif, France.4 aut
700a Wendt, Camillau Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.4 aut
700a Winqvist, Robertu Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu, Finland.4 aut
700a Zheng, Weiu Vanderbilt Univ, Sch Med, Div Epidemiol,Dept Med, Vanderbilt Ingram Canc Ctr,Vanderbilt Epidemiol C, Nashville, TN 37212 USA.4 aut
700a Benitez, Javieru Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain.;Ctr Invest Red Enfermedades Raras CIBERER, Valencia, Spain.4 aut
700a Dunning, Alison M.u Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Pharoah, Paul D. P.u Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Easton, Douglas F.u Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.4 aut
700a Czene, Kamilau Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a Hall, Peru Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.4 aut
700a Lindblom, Annikau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut
710a Karolinska Institutetb Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 org
773t Oncotargetd : IMPACT JOURNALS LLCg 8:61, s. 102769-102782q 8:61<102769-102782x 1949-2553
856u https://uu.diva-portal.org/smash/get/diva2:1189371/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856u http://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=21800&path%5B%5D=69160
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-345216
8564 8u https://doi.org/10.18632/oncotarget.21800
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:137557834

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