Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
Identifieur interne : 006121 ( Main/Exploration ); précédent : 006120; suivant : 006122Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia
Auteurs : E. Ellinghaus [Allemagne] ; M. Stanulla [Allemagne] ; G. Richter [Allemagne] ; D. Ellinghaus [Allemagne] ; G. Te Kronnie [Italie] ; G. Cario [Allemagne] ; G. Cazzaniga [Italie] ; M. Horstmann [Allemagne] ; R. Panzer Grümayer [Autriche] ; H. Cavé [France] ; J. Trka [République tchèque] ; O. Cinek [République tchèque] ; A. Teigler-Schlegel [Allemagne] ; A. Elsharawy [Allemagne] ; R. H Sler [Allemagne] ; A. Nebel [Allemagne] ; B. Meissner [Allemagne] ; T. Bartram [Allemagne] ; F. Lescai [Royaume-Uni] ; C. Franceschi [Italie] ; M. Giordan [Italie] ; P. Nürnberg [Allemagne] ; B. Heinzow [Allemagne, Australie] ; M. Zimmermann [Allemagne] ; S. Schreiber [Allemagne] ; M. Schrappe [Allemagne] ; A. Franke [Allemagne]Source :
- Leukemia [ 0887-6924 ] ; 2011.
Abstract
Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an
Url:
DOI: 10.1038/leu.2011.302
PubMed: 22076464
PubMed Central: 3356560
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of germline susceptibility loci in <italic>ETV6</italic>-<italic>RUNX1</italic>-rearranged childhood acute lymphoblastic leukemia</title><author><name sortKey="Ellinghaus, E" sort="Ellinghaus, E" uniqKey="Ellinghaus E" first="E" last="Ellinghaus">E. Ellinghaus</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Stanulla, M" sort="Stanulla, M" uniqKey="Stanulla M" first="M" last="Stanulla">M. Stanulla</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Richter, G" sort="Richter, G" uniqKey="Richter G" first="G" last="Richter">G. Richter</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ellinghaus, D" sort="Ellinghaus, D" uniqKey="Ellinghaus D" first="D" last="Ellinghaus">D. Ellinghaus</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Te Kronnie, G" sort="Te Kronnie, G" uniqKey="Te Kronnie G" first="G" last="Te Kronnie">G. Te Kronnie</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>, Padua,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cario, G" sort="Cario, G" uniqKey="Cario G" first="G" last="Cario">G. Cario</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cazzaniga, G" sort="Cazzaniga, G" uniqKey="Cazzaniga G" first="G" last="Cazzaniga">G. Cazzaniga</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>M. Tettamanti Research Center, Children's Hospital, University of Milan-Bicocca</institution>, Monza,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Horstmann, M" sort="Horstmann, M" uniqKey="Horstmann M" first="M" last="Horstmann">M. Horstmann</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinic of Pediatric Hematology and Oncology, University Medical Center, and Research Center Children's Cancer Center</institution>, Hamburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Panzer Grumayer, R" sort="Panzer Grumayer, R" uniqKey="Panzer Grumayer R" first="R" last="Panzer Grümayer">R. Panzer Grümayer</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>St Anna Children's Hospital and Children's Cancer Research Institute</institution>, Vienna,<country>Austria</country></nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cave, H" sort="Cave, H" uniqKey="Cave H" first="H" last="Cavé">H. Cavé</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Genetics, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Trka, J" sort="Trka, J" uniqKey="Trka J" first="J" last="Trka">J. Trka</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Department of Pediatric Hematology/Oncology, Second Faculty of Medicine, Charles University Prague</institution>, Prague,<country>Czech Republic</country></nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cinek, O" sort="Cinek, O" uniqKey="Cinek O" first="O" last="Cinek">O. Cinek</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Pediatrics, Second Faculty of Medicine, Charles University Prague</institution>, Prague,<country>Czech Republic</country></nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Teigler Schlegel, A" sort="Teigler Schlegel, A" uniqKey="Teigler Schlegel A" first="A" last="Teigler-Schlegel">A. Teigler-Schlegel</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Oncogenetic Laboratory, Department of Pediatric Hematology and Oncology, Justus-Liebig-University</institution>, Giessen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Elsharawy, A" sort="Elsharawy, A" uniqKey="Elsharawy A" first="A" last="Elsharawy">A. Elsharawy</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="H Sler, R" sort="H Sler, R" uniqKey="H Sler R" first="R" last="H Sler">R. H Sler</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nebel, A" sort="Nebel, A" uniqKey="Nebel A" first="A" last="Nebel">A. Nebel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meissner, B" sort="Meissner, B" uniqKey="Meissner B" first="B" last="Meissner">B. Meissner</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bartram, T" sort="Bartram, T" uniqKey="Bartram T" first="T" last="Bartram">T. Bartram</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lescai, F" sort="Lescai, F" uniqKey="Lescai F" first="F" last="Lescai">F. Lescai</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Division of Research Strategy, University College London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Franceschi, C" sort="Franceschi, C" uniqKey="Franceschi C" first="C" last="Franceschi">C. Franceschi</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Experimental Pathology, University of Bologna</institution>, Bologna,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giordan, M" sort="Giordan, M" uniqKey="Giordan M" first="M" last="Giordan">M. Giordan</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>, Padua,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, P" sort="Nurnberg, P" uniqKey="Nurnberg P" first="P" last="Nürnberg">P. Nürnberg</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Cologne Center for Genomics, University of Cologne</institution>, Cologne,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Heinzow, B" sort="Heinzow, B" uniqKey="Heinzow B" first="B" last="Heinzow">B. Heinzow</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>State Social Services Agency Schleswig-Holstein</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>University of Notre Dame, Sydney Medical School</institution>, Sydney,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zimmermann, M" sort="Zimmermann, M" uniqKey="Zimmermann M" first="M" last="Zimmermann">M. Zimmermann</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Pediatric Hematology and Oncology, Hannover Medical School</institution>, Hannover,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of General Internal Medicine, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Popgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schrappe, M" sort="Schrappe, M" uniqKey="Schrappe M" first="M" last="Schrappe">M. Schrappe</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Franke, A" sort="Franke, A" uniqKey="Franke A" first="A" last="Franke">A. 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Ellinghaus</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Stanulla, M" sort="Stanulla, M" uniqKey="Stanulla M" first="M" last="Stanulla">M. Stanulla</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Richter, G" sort="Richter, G" uniqKey="Richter G" first="G" last="Richter">G. Richter</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ellinghaus, D" sort="Ellinghaus, D" uniqKey="Ellinghaus D" first="D" last="Ellinghaus">D. Ellinghaus</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Te Kronnie, G" sort="Te Kronnie, G" uniqKey="Te Kronnie G" first="G" last="Te Kronnie">G. Te Kronnie</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>, Padua,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cario, G" sort="Cario, G" uniqKey="Cario G" first="G" last="Cario">G. Cario</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cazzaniga, G" sort="Cazzaniga, G" uniqKey="Cazzaniga G" first="G" last="Cazzaniga">G. Cazzaniga</name><affiliation wicri:level="1"><nlm:aff id="aff4"><institution>M. Tettamanti Research Center, Children's Hospital, University of Milan-Bicocca</institution>, Monza,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Horstmann, M" sort="Horstmann, M" uniqKey="Horstmann M" first="M" last="Horstmann">M. Horstmann</name><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Clinic of Pediatric Hematology and Oncology, University Medical Center, and Research Center Children's Cancer Center</institution>, Hamburg,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Panzer Grumayer, R" sort="Panzer Grumayer, R" uniqKey="Panzer Grumayer R" first="R" last="Panzer Grümayer">R. Panzer Grümayer</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>St Anna Children's Hospital and Children's Cancer Research Institute</institution>, Vienna,<country>Austria</country></nlm:aff><country xml:lang="fr">Autriche</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cave, H" sort="Cave, H" uniqKey="Cave H" first="H" last="Cavé">H. Cavé</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Genetics, Hôpital Robert Debré</institution>, Paris,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Trka, J" sort="Trka, J" uniqKey="Trka J" first="J" last="Trka">J. Trka</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Department of Pediatric Hematology/Oncology, Second Faculty of Medicine, Charles University Prague</institution>, Prague,<country>Czech Republic</country></nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cinek, O" sort="Cinek, O" uniqKey="Cinek O" first="O" last="Cinek">O. Cinek</name><affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Pediatrics, Second Faculty of Medicine, Charles University Prague</institution>, Prague,<country>Czech Republic</country></nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Teigler Schlegel, A" sort="Teigler Schlegel, A" uniqKey="Teigler Schlegel A" first="A" last="Teigler-Schlegel">A. Teigler-Schlegel</name><affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Oncogenetic Laboratory, Department of Pediatric Hematology and Oncology, Justus-Liebig-University</institution>, Giessen,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Elsharawy, A" sort="Elsharawy, A" uniqKey="Elsharawy A" first="A" last="Elsharawy">A. Elsharawy</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="H Sler, R" sort="H Sler, R" uniqKey="H Sler R" first="R" last="H Sler">R. H Sler</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nebel, A" sort="Nebel, A" uniqKey="Nebel A" first="A" last="Nebel">A. Nebel</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Meissner, B" sort="Meissner, B" uniqKey="Meissner B" first="B" last="Meissner">B. Meissner</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Bartram, T" sort="Bartram, T" uniqKey="Bartram T" first="T" last="Bartram">T. Bartram</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Lescai, F" sort="Lescai, F" uniqKey="Lescai F" first="F" last="Lescai">F. Lescai</name><affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Division of Research Strategy, University College London</institution>, London,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Franceschi, C" sort="Franceschi, C" uniqKey="Franceschi C" first="C" last="Franceschi">C. Franceschi</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Department of Experimental Pathology, University of Bologna</institution>, Bologna,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Giordan, M" sort="Giordan, M" uniqKey="Giordan M" first="M" last="Giordan">M. Giordan</name><affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Pediatrics, Laboratory of Pediatric Hematology/Oncology, University of Padua</institution>, Padua,<country>Italy</country></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nurnberg, P" sort="Nurnberg, P" uniqKey="Nurnberg P" first="P" last="Nürnberg">P. Nürnberg</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Cologne Center for Genomics, University of Cologne</institution>, Cologne,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Heinzow, B" sort="Heinzow, B" uniqKey="Heinzow B" first="B" last="Heinzow">B. Heinzow</name><affiliation wicri:level="1"><nlm:aff id="aff14"><institution>State Social Services Agency Schleswig-Holstein</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>University of Notre Dame, Sydney Medical School</institution>, Sydney,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Zimmermann, M" sort="Zimmermann, M" uniqKey="Zimmermann M" first="M" last="Zimmermann">M. Zimmermann</name><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Pediatric Hematology and Oncology, Hannover Medical School</institution>, Hannover,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of General Internal Medicine, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Popgen Biobank, University Hospital Schleswig-Holstein, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Schrappe, M" sort="Schrappe, M" uniqKey="Schrappe M" first="M" last="Schrappe">M. Schrappe</name><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel</institution>, Kiel,<country>Germany</country>,<institution>on behalf of the German Berlin-Frankfurt-Münster Study Group for Treatment of Childhood Acute Lymphoblastic Leukemia</institution></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Franke, A" sort="Franke, A" uniqKey="Franke A" first="A" last="Franke">A. Franke</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</institution>, Kiel,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Leukemia</title><idno type="ISSN">0887-6924</idno><idno type="eISSN">1476-5551</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Acute lymphoblastic leukemia (ALL) is a malignant disease of the white blood cells. The etiology of ALL is believed to be multifactorial and likely to involve an interplay of environmental and genetic variables. We performed a genome-wide association study of 355 750 single-nucleotide polymorphisms (SNPs) in 474 controls and 419 childhood ALL cases characterized by a t(12;21)(p13;q22) — the most common chromosomal translocation observed in childhood ALL — which leads to an <italic>ETV6–RUNX1</italic> gene fusion. The eight most strongly associated SNPs were followed-up in 951 <italic>ETV6-RUNX1</italic>-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (<italic>TP63</italic>, rs17505102, <italic>P</italic><sub>CMH</sub>=8.94 × 10<sup>−9</sup>, OR=0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (<italic>OR8U8</italic>, rs1945213, <italic>P</italic>=9.14 × 10<sup>−11</sup>, OR=0.69) and 8p21.3 (near <italic>INTS10</italic>, rs920590, <italic>P</italic>=6.12 × 10<sup>−9</sup>, OR=1.36). These associations and another association at 11p11.2 (<italic>PTPRJ</italic>, rs3942852, <italic>P</italic>=4.95 × 10<sup>−7</sup>, OR=0.72) remained significant in the German/Austrian replication panel after correction for multiple testing. Our findings demonstrate that germline genetic variation can specifically contribute to the risk of <italic>ETV6–RUNX1</italic>-positive childhood ALL. The identification of <italic>TP63</italic> and <italic>PTPRJ</italic> as susceptibility genes emphasize the role of the <italic>TP53</italic> gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Pui, Ch" uniqKey="Pui C">CH Pui</name></author><author><name sortKey="Evans, We" uniqKey="Evans W">WE Evans</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Stanulla, M" uniqKey="Stanulla M">M Stanulla</name></author><author><name sortKey="Schrappe, M" uniqKey="Schrappe M">M Schrappe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Redaelli, A" uniqKey="Redaelli A">A Redaelli</name></author><author><name sortKey="Laskin, Bl" uniqKey="Laskin B">BL Laskin</name></author><author><name sortKey="Stephens, Jm" uniqKey="Stephens J">JM Stephens</name></author><author><name 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Cristofaro</name></author><author><name sortKey="Baudi, F" uniqKey="Baudi F">F Baudi</name></author><author><name sortKey="Arturi, F" uniqKey="Arturi F">F Arturi</name></author><author><name sortKey="Pallante, P" uniqKey="Pallante P">P Pallante</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ruivenkamp, Ca" uniqKey="Ruivenkamp C">CA Ruivenkamp</name></author><author><name sortKey="Van Wezel, T" uniqKey="Van Wezel T">T van Wezel</name></author><author><name sortKey="Zanon, C" uniqKey="Zanon C">C Zanon</name></author><author><name sortKey="Stassen, Ap" uniqKey="Stassen A">AP Stassen</name></author><author><name sortKey="Vlcek, C" uniqKey="Vlcek C">C Vlcek</name></author><author><name sortKey="Csikos, T" uniqKey="Csikos T">T Csikos</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ruivenkamp, C" uniqKey="Ruivenkamp C">C Ruivenkamp</name></author><author><name sortKey="Hermsen, M" uniqKey="Hermsen M">M 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Fuente-Garcia</name></author><author><name sortKey="Nicolas, Jm" uniqKey="Nicolas J">JM Nicolas</name></author><author><name sortKey="Freed, Jh" uniqKey="Freed J">JH Freed</name></author><author><name sortKey="Palou, E" uniqKey="Palou E">E Palou</name></author><author><name sortKey="Thomas, Ap" uniqKey="Thomas A">AP Thomas</name></author><author><name sortKey="Vilella, R" uniqKey="Vilella R">R Vilella</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhu, Jw" uniqKey="Zhu J">JW Zhu</name></author><author><name sortKey="Brdicka, T" uniqKey="Brdicka T">T Brdicka</name></author><author><name sortKey="Katsumoto, Tr" uniqKey="Katsumoto T">TR Katsumoto</name></author><author><name sortKey="Lin, J" uniqKey="Lin J">J Lin</name></author><author><name sortKey="Weiss, A" uniqKey="Weiss A">A Weiss</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Autriche</li><li>France</li><li>Italie</li><li>Royaume-Uni</li><li>République tchèque</li></country></list><tree><country name="Allemagne"><noRegion><name sortKey="Ellinghaus, E" sort="Ellinghaus, E" uniqKey="Ellinghaus E" first="E" last="Ellinghaus">E. Ellinghaus</name></noRegion><name sortKey="Bartram, T" sort="Bartram, T" uniqKey="Bartram T" first="T" last="Bartram">T. Bartram</name><name sortKey="Cario, G" sort="Cario, G" uniqKey="Cario G" first="G" last="Cario">G. Cario</name><name sortKey="Ellinghaus, D" sort="Ellinghaus, D" uniqKey="Ellinghaus D" first="D" last="Ellinghaus">D. Ellinghaus</name><name sortKey="Elsharawy, A" sort="Elsharawy, A" uniqKey="Elsharawy A" first="A" last="Elsharawy">A. Elsharawy</name><name sortKey="Franke, A" sort="Franke, A" uniqKey="Franke A" first="A" last="Franke">A. Franke</name><name sortKey="H Sler, R" sort="H Sler, R" uniqKey="H Sler R" first="R" last="H Sler">R. H Sler</name><name sortKey="Heinzow, B" sort="Heinzow, B" uniqKey="Heinzow B" first="B" last="Heinzow">B. Heinzow</name><name sortKey="Horstmann, M" sort="Horstmann, M" uniqKey="Horstmann M" first="M" last="Horstmann">M. Horstmann</name><name sortKey="Meissner, B" sort="Meissner, B" uniqKey="Meissner B" first="B" last="Meissner">B. Meissner</name><name sortKey="Nebel, A" sort="Nebel, A" uniqKey="Nebel A" first="A" last="Nebel">A. Nebel</name><name sortKey="Nurnberg, P" sort="Nurnberg, P" uniqKey="Nurnberg P" first="P" last="Nürnberg">P. Nürnberg</name><name sortKey="Richter, G" sort="Richter, G" uniqKey="Richter G" first="G" last="Richter">G. Richter</name><name sortKey="Schrappe, M" sort="Schrappe, M" uniqKey="Schrappe M" first="M" last="Schrappe">M. Schrappe</name><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name><name sortKey="Schreiber, S" sort="Schreiber, S" uniqKey="Schreiber S" first="S" last="Schreiber">S. Schreiber</name><name sortKey="Stanulla, M" sort="Stanulla, M" uniqKey="Stanulla M" first="M" last="Stanulla">M. Stanulla</name><name sortKey="Teigler Schlegel, A" sort="Teigler Schlegel, A" uniqKey="Teigler Schlegel A" first="A" last="Teigler-Schlegel">A. Teigler-Schlegel</name><name sortKey="Zimmermann, M" sort="Zimmermann, M" uniqKey="Zimmermann M" first="M" last="Zimmermann">M. Zimmermann</name></country><country name="Italie"><noRegion><name sortKey="Te Kronnie, G" sort="Te Kronnie, G" uniqKey="Te Kronnie G" first="G" last="Te Kronnie">G. Te Kronnie</name></noRegion><name sortKey="Cazzaniga, G" sort="Cazzaniga, G" uniqKey="Cazzaniga G" first="G" last="Cazzaniga">G. Cazzaniga</name><name sortKey="Franceschi, C" sort="Franceschi, C" uniqKey="Franceschi C" first="C" last="Franceschi">C. Franceschi</name><name sortKey="Giordan, M" sort="Giordan, M" uniqKey="Giordan M" first="M" last="Giordan">M. Giordan</name></country><country name="Autriche"><noRegion><name sortKey="Panzer Grumayer, R" sort="Panzer Grumayer, R" uniqKey="Panzer Grumayer R" first="R" last="Panzer Grümayer">R. Panzer Grümayer</name></noRegion></country><country name="France"><noRegion><name sortKey="Cave, H" sort="Cave, H" uniqKey="Cave H" first="H" last="Cavé">H. Cavé</name></noRegion></country><country name="République tchèque"><noRegion><name sortKey="Trka, J" sort="Trka, J" uniqKey="Trka J" first="J" last="Trka">J. Trka</name></noRegion><name sortKey="Cinek, O" sort="Cinek, O" uniqKey="Cinek O" first="O" last="Cinek">O. Cinek</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Lescai, F" sort="Lescai, F" uniqKey="Lescai F" first="F" last="Lescai">F. Lescai</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Heinzow, B" sort="Heinzow, B" uniqKey="Heinzow B" first="B" last="Heinzow">B. Heinzow</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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