A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.
Identifieur interne : 002207 ( PubMed/Curation ); précédent : 002206; suivant : 002208A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.
Auteurs : Eric A. Hungate [États-Unis] ; Sapana R. Vora [États-Unis] ; Eric R. Gamazon [États-Unis] ; Takaya Moriyama [États-Unis] ; Timothy Best [États-Unis] ; Imge Hulur [États-Unis] ; Younghee Lee [États-Unis] ; Tiffany-Jane Evans [Australie] ; Eva Ellinghaus [Allemagne] ; Martin Stanulla [Allemagne] ; Jéremie Rudant [France] ; Laurent Orsi [France] ; Jacqueline Clavel [France] ; Elizabeth Milne [Australie] ; Rodney J. Scott [Australie] ; Ching-Hon Pui [États-Unis] ; Nancy J. Cox [États-Unis] ; Mignon L. Loh [États-Unis] ; Jun J. Yang [États-Unis] ; Andrew D. Skol [États-Unis] ; Kenan Onel [États-Unis]Source :
- Nature communications [ 2041-1723 ] ; 2016.
Descripteurs français
- KwdFr :
- Afro-Américains (génétique), Cartographie chromosomique, Chromosomes humains de la paire 9 (génétique), Enfant, Enfant d'âge préscolaire, Femelle, Hispano-américain (génétique), Humains, Inhibiteur p15 de kinase cycline-dépendante (génétique), Leucémie-lymphome lymphoblastique à précurseurs B (génétique), Mâle, Nourrisson, Polymorphisme de nucléotide simple, Population d'origine européenne (génétique), Prédisposition génétique à une maladie, Variation génétique, Étude d'association pangénomique, Études cas-témoins.
- MESH :
- génétique : Afro-Américains, Chromosomes humains de la paire 9, Hispano-américain, Inhibiteur p15 de kinase cycline-dépendante, Leucémie-lymphome lymphoblastique à précurseurs B, Population d'origine européenne.
- Cartographie chromosomique, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Mâle, Nourrisson, Polymorphisme de nucléotide simple, Prédisposition génétique à une maladie, Variation génétique, Étude d'association pangénomique, Études cas-témoins.
English descriptors
- KwdEn :
- African Americans (genetics), Case-Control Studies, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 9 (genetics), Cyclin-Dependent Kinase Inhibitor p15 (genetics), European Continental Ancestry Group (genetics), Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Hispanic Americans (genetics), Humans, Infant, Male, Polymorphism, Single Nucleotide, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma (genetics).
- MESH :
- chemical , genetics : Cyclin-Dependent Kinase Inhibitor p15.
- genetics : African Americans, Chromosomes, Human, Pair 9, European Continental Ancestry Group, Hispanic Americans, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma.
- Case-Control Studies, Child, Child, Preschool, Chromosome Mapping, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Male, Polymorphism, Single Nucleotide.
Abstract
Paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) is the most common cancer of childhood, yet little is known about BCP-ALL predisposition. In this study, in 2,187 cases of European ancestry and 5,543 controls, we discover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined=3.32 × 10(-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.
DOI: 10.1038/ncomms10635
PubMed: 26868379
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<sourceDesc><biblStruct><analytic><title xml:lang="en">A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.</title>
<author><name sortKey="Hungate, Eric A" sort="Hungate, Eric A" uniqKey="Hungate E" first="Eric A" last="Hungate">Eric A. Hungate</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637</wicri:regionArea>
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<author><name sortKey="Vora, Sapana R" sort="Vora, Sapana R" uniqKey="Vora S" first="Sapana R" last="Vora">Sapana R. Vora</name>
<affiliation wicri:level="1"><nlm:affiliation>Committee on Cancer Biology, University of Chicago, Chicago, Illinois 60637, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Committee on Cancer Biology, University of Chicago, Chicago, Illinois 60637</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gamazon, Eric R" sort="Gamazon, Eric R" uniqKey="Gamazon E" first="Eric R" last="Gamazon">Eric R. Gamazon</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232</wicri:regionArea>
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<author><name sortKey="Moriyama, Takaya" sort="Moriyama, Takaya" uniqKey="Moriyama T" first="Takaya" last="Moriyama">Takaya Moriyama</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Best, Timothy" sort="Best, Timothy" uniqKey="Best T" first="Timothy" last="Best">Timothy Best</name>
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<author><name sortKey="Hulur, Imge" sort="Hulur, Imge" uniqKey="Hulur I" first="Imge" last="Hulur">Imge Hulur</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, Illinois 60637</wicri:regionArea>
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<author><name sortKey="Lee, Younghee" sort="Lee, Younghee" uniqKey="Lee Y" first="Younghee" last="Lee">Younghee Lee</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Evans, Tiffany Jane" sort="Evans, Tiffany Jane" uniqKey="Evans T" first="Tiffany-Jane" last="Evans">Tiffany-Jane Evans</name>
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<author><name sortKey="Ellinghaus, Eva" sort="Ellinghaus, Eva" uniqKey="Ellinghaus E" first="Eva" last="Ellinghaus">Eva Ellinghaus</name>
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<country xml:lang="fr">Allemagne</country>
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</affiliation>
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<author><name sortKey="Stanulla, Martin" sort="Stanulla, Martin" uniqKey="Stanulla M" first="Martin" last="Stanulla">Martin Stanulla</name>
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<wicri:regionArea>Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel 24105</wicri:regionArea>
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<author><name sortKey="Rudant, Jeremie" sort="Rudant, Jeremie" uniqKey="Rudant J" first="Jéremie" last="Rudant">Jéremie Rudant</name>
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<country xml:lang="fr">France</country>
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</affiliation>
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<author><name sortKey="Orsi, Laurent" sort="Orsi, Laurent" uniqKey="Orsi L" first="Laurent" last="Orsi">Laurent Orsi</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Milne, Elizabeth" sort="Milne, Elizabeth" uniqKey="Milne E" first="Elizabeth" last="Milne">Elizabeth Milne</name>
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<author><name sortKey="Scott, Rodney J" sort="Scott, Rodney J" uniqKey="Scott R" first="Rodney J" last="Scott">Rodney J. Scott</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Faculty of Medicine and Health, Information Based Medicine, Hunter Medical Research Institute, School of Biomedical Sciences and Pharmacy, University of Newcastle, New Lambton, New South Wales 2305</wicri:regionArea>
</affiliation>
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<author><name sortKey="Pui, Ching Hon" sort="Pui, Ching Hon" uniqKey="Pui C" first="Ching-Hon" last="Pui">Ching-Hon Pui</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee 38105</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cox, Nancy J" sort="Cox, Nancy J" uniqKey="Cox N" first="Nancy J" last="Cox">Nancy J. Cox</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232</wicri:regionArea>
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<author><name sortKey="Yang, Jun J" sort="Yang, Jun J" uniqKey="Yang J" first="Jun J" last="Yang">Jun J. Yang</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee 38105</wicri:regionArea>
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<author><name sortKey="Skol, Andrew D" sort="Skol, Andrew D" uniqKey="Skol A" first="Andrew D" last="Skol">Andrew D. Skol</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637</wicri:regionArea>
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<author><name sortKey="Onel, Kenan" sort="Onel, Kenan" uniqKey="Onel K" first="Kenan" last="Onel">Kenan Onel</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637</wicri:regionArea>
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<series><title level="j">Nature communications</title>
<idno type="eISSN">2041-1723</idno>
<imprint><date when="2016" type="published">2016</date>
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<term>Case-Control Studies</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 9 (genetics)</term>
<term>Cyclin-Dependent Kinase Inhibitor p15 (genetics)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>Genome-Wide Association Study</term>
<term>Hispanic Americans (genetics)</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Precursor B-Cell Lymphoblastic Leukemia-Lymphoma (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Afro-Américains (génétique)</term>
<term>Cartographie chromosomique</term>
<term>Chromosomes humains de la paire 9 (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Hispano-américain (génétique)</term>
<term>Humains</term>
<term>Inhibiteur p15 de kinase cycline-dépendante (génétique)</term>
<term>Leucémie-lymphome lymphoblastique à précurseurs B (génétique)</term>
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<term>Nourrisson</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Population d'origine européenne (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Variation génétique</term>
<term>Étude d'association pangénomique</term>
<term>Études cas-témoins</term>
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</keywords>
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<term>Chromosomes, Human, Pair 9</term>
<term>European Continental Ancestry Group</term>
<term>Hispanic Americans</term>
<term>Precursor B-Cell Lymphoblastic Leukemia-Lymphoma</term>
</keywords>
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<term>Chromosomes humains de la paire 9</term>
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<term>Inhibiteur p15 de kinase cycline-dépendante</term>
<term>Leucémie-lymphome lymphoblastique à précurseurs B</term>
<term>Population d'origine européenne</term>
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<keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Chromosome Mapping</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Variation</term>
<term>Genome-Wide Association Study</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Polymorphism, Single Nucleotide</term>
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<term>Enfant d'âge préscolaire</term>
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<front><div type="abstract" xml:lang="en">Paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) is the most common cancer of childhood, yet little is known about BCP-ALL predisposition. In this study, in 2,187 cases of European ancestry and 5,543 controls, we discover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined=3.32 × 10(-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.</div>
</front>
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<DateCreated><Year>2016</Year>
<Month>02</Month>
<Day>12</Day>
</DateCreated>
<DateCompleted><Year>2016</Year>
<Month>06</Month>
<Day>28</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>04</Month>
<Day>11</Day>
</DateRevised>
<Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">2041-1723</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>7</Volume>
<PubDate><Year>2016</Year>
<Month>Feb</Month>
<Day>12</Day>
</PubDate>
</JournalIssue>
<Title>Nature communications</Title>
<ISOAbbreviation>Nat Commun</ISOAbbreviation>
</Journal>
<ArticleTitle>A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology.</ArticleTitle>
<Pagination><MedlinePgn>10635</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/ncomms10635</ELocationID>
<Abstract><AbstractText>Paediatric B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) is the most common cancer of childhood, yet little is known about BCP-ALL predisposition. In this study, in 2,187 cases of European ancestry and 5,543 controls, we discover and replicate a locus indexed by rs77728904 at 9p21.3 associated with BCP-ALL susceptibility (Pcombined=3.32 × 10(-15), OR=1.72) and independent from rs3731217, the previously reported ALL-associated variant in this region. Of correlated SNPs tagged by this locus, only rs662463 is significant in African Americans, suggesting it is a plausible causative variant. Functional analysis shows that rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and suggests that rs662463 influences BCP-ALL risk by regulating CDKN2B expression through CEBPB signalling. Functional analysis of rs3731217 suggests it is associated with BCP-ALL by acting within a splicing regulatory element determining CDKN2A exon 3 usage (P=0.01). These findings provide new insights into the critical role of the CDKN2 locus in BCP-ALL aetiology.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hungate</LastName>
<ForeName>Eric A</ForeName>
<Initials>EA</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vora</LastName>
<ForeName>Sapana R</ForeName>
<Initials>SR</Initials>
<AffiliationInfo><Affiliation>Committee on Cancer Biology, University of Chicago, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gamazon</LastName>
<ForeName>Eric R</ForeName>
<Initials>ER</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>The Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Moriyama</LastName>
<ForeName>Takaya</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Best</LastName>
<ForeName>Timothy</ForeName>
<Initials>T</Initials>
<AffiliationInfo><Affiliation>Committee on Cancer Biology, University of Chicago, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Hulur</LastName>
<ForeName>Imge</ForeName>
<Initials>I</Initials>
<AffiliationInfo><Affiliation>Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lee</LastName>
<ForeName>Younghee</ForeName>
<Initials>Y</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Evans</LastName>
<ForeName>Tiffany-Jane</ForeName>
<Initials>TJ</Initials>
<AffiliationInfo><Affiliation>Faculty of Medicine and Health, Information Based Medicine, Hunter Medical Research Institute, School of Biomedical Sciences and Pharmacy, University of Newcastle, New Lambton, New South Wales 2305, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ellinghaus</LastName>
<ForeName>Eva</ForeName>
<Initials>E</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0003-2914-3382</Identifier>
<AffiliationInfo><Affiliation>Institute of Clinical Molecular Biology, Christian-Albrechts University, Kiel 24118, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Stanulla</LastName>
<ForeName>Martin</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, University Hospital Schleswig-Holstein, Kiel 24105, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rudant</LastName>
<ForeName>Jéremie</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>INSERM U1153 Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Epidemiology of Childhood and Adolescent Cancers Team (EPICEA), Villejuif 94807, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>UMRS-1153, Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Paris-Descartes University, Paris 75270, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Orsi</LastName>
<ForeName>Laurent</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>INSERM U1153 Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Epidemiology of Childhood and Adolescent Cancers Team (EPICEA), Villejuif 94807, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>UMRS-1153, Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Paris-Descartes University, Paris 75270, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Clavel</LastName>
<ForeName>Jacqueline</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>INSERM U1153 Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Epidemiology of Childhood and Adolescent Cancers Team (EPICEA), Villejuif 94807, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>UMRS-1153, Epidemiology and Biostatistics Sorbonne Paris Cité Center (CRESS), Paris-Descartes University, Paris 75270, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>French National Registry of Childhood Hematopoietic Malignancies (RNHE), Villejuif 94807, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Milne</LastName>
<ForeName>Elizabeth</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Telethon Kids Institute, University of Western Australia, Crawley, Western Australia 6872, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Scott</LastName>
<ForeName>Rodney J</ForeName>
<Initials>RJ</Initials>
<AffiliationInfo><Affiliation>Faculty of Medicine and Health, Information Based Medicine, Hunter Medical Research Institute, School of Biomedical Sciences and Pharmacy, University of Newcastle, New Lambton, New South Wales 2305, Australia.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Division of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, New South Wales 2305, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Pui</LastName>
<ForeName>Ching-Hon</ForeName>
<Initials>CH</Initials>
<AffiliationInfo><Affiliation>Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Cox</LastName>
<ForeName>Nancy J</ForeName>
<Initials>NJ</Initials>
<AffiliationInfo><Affiliation>Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Loh</LastName>
<ForeName>Mignon L</ForeName>
<Initials>ML</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, University of California-San Francisco, San Francisco, California 94143, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yang</LastName>
<ForeName>Jun J</ForeName>
<Initials>JJ</Initials>
<Identifier Source="ORCID">http://orcid.org/0000-0002-0770-9659</Identifier>
<AffiliationInfo><Affiliation>Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Skol</LastName>
<ForeName>Andrew D</ForeName>
<Initials>AD</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Onel</LastName>
<ForeName>Kenan</ForeName>
<Initials>K</Initials>
<AffiliationInfo><Affiliation>Department of Pediatrics, University of Chicago, 900 East 57th Street, Room 5140, MC 4060, Chicago, Illinois 60637, USA.</Affiliation>
</AffiliationInfo>
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<Acronym>CA</Acronym>
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<Country>United States</Country>
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<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
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<Agency>NICHD NIH HHS</Agency>
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<Country>United States</Country>
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<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
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<Acronym>GM</Acronym>
<Agency>NIGMS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U10 CA098543</GrantID>
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<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>R01 MH101820</GrantID>
<Acronym>MH</Acronym>
<Agency>NIMH NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>CA129045</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U01CA176063</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U10 CA98543</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U01 GM092666</GrantID>
<Acronym>GM</Acronym>
<Agency>NIGMS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>P50 GM115279</GrantID>
<Acronym>GM</Acronym>
<Agency>NIGMS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>U01 CA176063</GrantID>
<Acronym>CA</Acronym>
<Agency>NCI NIH HHS</Agency>
<Country>United States</Country>
</Grant>
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<Month>02</Month>
<Day>12</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Nat Commun</MedlineTA>
<NlmUniqueID>101528555</NlmUniqueID>
<ISSNLinking>2041-1723</ISSNLinking>
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</Chemical>
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<NameOfSubstance UI="D050762">Cyclin-Dependent Kinase Inhibitor p15</NameOfSubstance>
</Chemical>
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<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Nature. 2011 Oct 6;478(7367):103-9</RefSource>
<PMID Version="1">21909115</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2012;8(4):e1002639</RefSource>
<PMID Version="1">22532805</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2010;5(5):e10693</RefSource>
<PMID Version="1">20502693</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Biometrics. 1999 Dec;55(4):997-1004</RefSource>
<PMID Version="1">11315092</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2007 Jun;80(6):1171-8</RefSource>
<PMID Version="1">17503334</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2010 Apr;6(4):e1000888</RefSource>
<PMID Version="1">20369019</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genome Res. 2014 Jan;24(1):14-24</RefSource>
<PMID Version="1">24092820</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Leukemia. 2012 May;26(5):902-9</RefSource>
<PMID Version="1">22076464</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2004 Jan 1;32(Database issue):D91-4</RefSource>
<PMID Version="1">14681366</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2006 Aug;38(8):904-9</RefSource>
<PMID Version="1">16862161</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genetics. 2000 Jun;155(2):945-59</RefSource>
<PMID Version="1">10835412</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2013 Nov 7;122(19):3298-307</RefSource>
<PMID Version="1">23996088</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Community Genet. 2006;9(1):55-61</RefSource>
<PMID Version="1">16490960</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2007 Sep;39(9):1045-51</RefSource>
<PMID Version="1">17728769</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2012 Nov 1;491(7422):56-65</RefSource>
<PMID Version="1">23128226</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2010 Jun;42(6):492-4</RefSource>
<PMID Version="1">20453839</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Cell. 1995 Dec 15;83(6):993-1000</RefSource>
<PMID Version="1">8521522</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2008 Jun 15;111(12):5477-85</RefSource>
<PMID Version="1">18388178</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genome Biol. 2006;7 Suppl 1:S12.1-14</RefSource>
<PMID Version="1">16925834</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Leukemia. 2012 Dec;26(12):2561-4</RefSource>
<PMID Version="1">22660188</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2013 Sep 26;501(7468):506-11</RefSource>
<PMID Version="1">24037378</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2012 Jan;40(Database issue):D930-4</RefSource>
<PMID Version="1">22064851</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Biotechnol. 2010 Oct;28(10):1045-8</RefSource>
<PMID Version="1">20944595</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Sep;41(9):1006-10</RefSource>
<PMID Version="1">19684604</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Int J Cell Biol. 2013;2013:463786</RefSource>
<PMID Version="1">24101931</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>EMBO J. 1998 Sep 1;17(17):5001-14</RefSource>
<PMID Version="1">9724636</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2006 Jan 1;34(Database issue):D108-10</RefSource>
<PMID Version="1">16381825</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Methods. 2012 Feb;9(2):179-81</RefSource>
<PMID Version="1">22138821</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2014;9(10):e110255</RefSource>
<PMID Version="1">25310577</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Nov 17;118(20):5559-64</RefSource>
<PMID Version="1">21960589</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Biotechnol. 2010 May;28(5):511-5</RefSource>
<PMID Version="1">20436464</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2007 Jul;39(7):906-13</RefSource>
<PMID Version="1">17572673</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Cancer Discov. 2013 Nov;3(11):1228-37</RefSource>
<PMID Version="1">24145039</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2012 Sep 6;489(7414):57-74</RefSource>
<PMID Version="1">22955616</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Epidemiol. 2002 Nov 1;156(9):871-81</RefSource>
<PMID Version="1">12397006</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Oncogene. 2007 Oct 25;26(49):7017-27</RefSource>
<PMID Version="1">17486064</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>BMJ. 2003 Sep 6;327(7414):557-60</RefSource>
<PMID Version="1">12958120</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Leukemia. 2012 Oct;26(10):2212-5</RefSource>
<PMID Version="1">22456626</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2010 Sep 1;26(17):2190-1</RefSource>
<PMID Version="1">20616382</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 1995 Feb 15;85(4):893-901</RefSource>
<PMID Version="1">7849311</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Mol Cell Biol. 1996 Jan;16(1):146-56</RefSource>
<PMID Version="1">8524291</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2005 Jan 15;21(2):263-5</RefSource>
<PMID Version="1">15297300</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2010 Sep 2;467(7311):52-8</RefSource>
<PMID Version="1">20811451</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Cancer Epidemiol. 2013 Jun;37(3):336-47</RefSource>
<PMID Version="1">23403126</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2013 Jun;45(6):580-5</RefSource>
<PMID Version="1">23715323</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2009 Sep;41(9):1001-5</RefSource>
<PMID Version="1">19684603</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2013 Jun 6;121(23):4808-9</RefSource>
<PMID Version="1">23744494</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Natl Cancer Inst. 2013 May 15;105(10):733-42</RefSource>
<PMID Version="1">23512250</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9</RefSource>
<PMID Version="1">23155063</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2007 Apr 15;109(8):3451-61</RefSource>
<PMID Version="1">17170124</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2013 Feb;45(2):124-30</RefSource>
<PMID Version="1">23263488</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Cancer Res. 2007 Apr 15;67(8):3963-9</RefSource>
<PMID Version="1">17440112</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genome Res. 2012 Sep;22(9):1790-7</RefSource>
<PMID Version="1">22955989</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2010 Sep 15;26(18):2336-7</RefSource>
<PMID Version="1">20634204</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Jul 28;118(4):1041-51</RefSource>
<PMID Version="1">21628403</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2007 Sep;81(3):559-75</RefSource>
<PMID Version="1">17701901</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2001 Nov 1;10(23):2679-86</RefSource>
<PMID Version="1">11726555</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2008 Oct;40(10):1253-60</RefSource>
<PMID Version="1">18776909</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nucleic Acids Res. 2013 Jan;41(Database issue):D171-6</RefSource>
<PMID Version="1">23203885</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2012;8(10):e1002998</RefSource>
<PMID Version="1">23133393</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Mar;43(3):237-41</RefSource>
<PMID Version="1">21297632</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>J Clin Invest. 2012 Oct;122(10):3407-15</RefSource>
<PMID Version="1">23023711</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Genes Dev. 2008 Jun 1;22(11):1411-5</RefSource>
<PMID Version="1">18519632</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Am J Epidemiol. 2010 Nov 1;172(9):1015-27</RefSource>
<PMID Version="1">20807738</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nature. 2007 Apr 12;446(7137):758-64</RefSource>
<PMID Version="1">17344859</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2013 Dec;45(12):1494-8</RefSource>
<PMID Version="1">24141364</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2009 Jun;5(6):e1000529</RefSource>
<PMID Version="1">19543373</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Oncogene. 2003 Sep 25;22(41):6387-94</RefSource>
<PMID Version="1">14508519</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
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