ArticleNature genetics2013
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
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In one paragraph
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
183citing papers in PubMed, 1 pooled it
30.7field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
183 citing papers in PubMed, 1 synthesis or guideline pooled it, 324 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Recurrent somatic mutations and low germline predisposition mutations in Korean ALL patients.Scientific reports · 2021Trial
- PAX5 modulates vascularization and contributes to neuroendocrine lineage transition during carcinoma progression.The Journal of clinical investigation · 2026Article
- Association of Childhood Acute Leukemia With Autoimmune Diseases.International journal of cancer · 2026Article
- A genomic and epigenomic lens into the biology of acute lymphoblastic leukaemia.Nature reviews. Cancer · 2026Review
- Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Integrated Genomic Profiling of Pediatric Acute Lymphoblastic Leukemia: Genomic Landscape, Risk Stratification and Association of RAS Pathway Mutations with Early Treatment Response.International journal of molecular sciences · 2026Article
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- PD-1 Expression Promotes Immune Evasion in B-ALL.Hematology reports · 2025Article
- Review
- Familial Patterns in Acute Lymphoblastic Leukemia: Lessons From Three Siblings.Clinical case reports · 2025Article
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- IGH::IL3-Rearranged B-Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant.Genes, chromosomes & cancer · 2025Article
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Trajectories from single-cells to PAX5-driven leukemia reveal PAX5-MYC interplay in vivo.Leukemia · 2025Article
- PAX Family, Master Regulator in Cancer.Diagnostics (Basel, Switzerland) · 2025Review
- Review
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
123 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
70 authors at 17 institutions in 4 countries.
Sohela Shah *Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Kasmintan A Schrader *Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Esmé Waanders *Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Andrew E Timms *Department of Pathology, University of Washington, Seattle, Washington, USA.
Joseph Vijai *Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Cornelius Miething *Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Jeremy WechslerDepartment of Pathology, University of Washington, Seattle, Washington, USA.
Jun YangDepartment of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
James HayesCancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Robert J KleinCancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Jinghui ZhangDepartment of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Lei WeiDepartment of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Gang WuDepartment of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Michael RuschDepartment of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Panduka NagahawatteDepartment of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Jing MaPediatric Cancer Genome Project Laboratory, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Shann-Ching ChenDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Guangchun SongDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Jinjun ChengDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Paul MeyersDepartment of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Deepa BhojwaniDepartment of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Suresh JhanwarDepartment of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Peter MaslakHematology Laboratory Service, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Martin FleisherClinical Chemistry Service, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Jason LittmanClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Lily OffitClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Rohini Rau-MurthyClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Megan Harlan FleischutClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Marina CorinesClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Rajmohan MuraliDepartment of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Xiaoni GaoCancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Christopher ManschreckClinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Thomas KitzingCancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Vundavalli V MurtyDepartment of Pathology and Cell Biology, Columbia University, New York, New York, USA.
Susana RaimondiDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Roland P KuiperDepartment of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Radboud Institute for Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Annet SimonsDepartment of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Radboud Institute for Oncology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Joshua D SchiffmanHigh Risk Pediatric Cancer Clinic, Huntsman Cancer Institute/Primary Children's Medical Center, University of Utah, Salt Lake City, Utah, USA.
Kenan OnelPediatrics, University of Chicago, Chicago, IL , USA.
Sharon E PlonTexas Children's Cancer Center and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
David WheelerTexas Children's Cancer Center and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Deborah RitterTexas Children's Cancer Center and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
David S ZieglerKids Cancer Centre, Sydney Children's Hospital, Sydney, New South Wales, Australia, Children's Cancer Institute Australia for Medical Research, Lowy Cancer Research Centre, University of New South Wales, Sydney, New South Wales, Australia.
Kathy TuckerHereditary Cancer Clinic Prince of Wales Hospital, Randwick, Australia.
Rosemary SuttonChildren's Cancer Institute Australia for Medical Research, University of New South Wales, Randwick, Australia.
Georgia Chenevix-TrenchCancer Genetics Laboratory, The Queensland Institute of Medical Research, Herston, Australia.
Jun LiCancer Genetics Laboratory, The Queensland Institute of Medical Research, Herston, Australia.
David G HuntsmanPathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Samantha HansfordPathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Janine SenzPathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Thomas WalshDepartments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA.
Ming LeeDepartments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA.
Christopher N HahnDepartment of Molecular Pathology, SA Pathology and Centre for Cancer Biology, Adelaide, Australia.
Kathryn RobertsDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Mary-Claire KingDepartments of Medicine and Genome Sciences, University of Washington, Seattle, Washington, USA.
Sarah M LoDepartment of Pediatrics, Weill Cornell College of Medicine, New York, New York, USA.
Ross L LevineDepartment of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Agnes VialeGenomics Core Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Nicholas D SocciBioinformatics Core, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Katherine L NathansonDepartment of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Hamish S ScottDepartment of Molecular Pathology, SA Pathology and Centre for Cancer Biology, Adelaide, Australia.
Mark DalyBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Steven M LipkinDepartment of Medicine, Weill Cornell College of Medicine, New York, New York, USA.
Scott W LoweCancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
James R DowningDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
David AltshulerBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
John T Sandlund *Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Marshall S Horwitz *Department of Pathology, University of Washington, Seattle, Washington, USA.
Charles G Mullighan *Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Kenneth Offit *Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, USA.
Memorial Sloan Kettering Cancer Center · USSt. Jude Children's Research Hospital · USUniversity of Washington · USBaylor College of Medicine · USUniversity of British Columbia · CABroad Institute · USCornell University · USQIMR Berghofer Medical Research Institute · AURadboud University Nijmegen · NLSouth Australia Pathology · AUChildren's Cancer Institute Australia · AUChildren's Medical Center · USColumbia University · USPrince of Wales Hospital · AUUniversity of Chicago · USUniversity of Pennsylvania · USUNSW Sydney · AU
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MViral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9MResearch Education and Career Horizons ProgramK12GM084897 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SIFERS, RICHARD NORMAN, SLAUGHTER, GAYLE · 2008 to 2016
$8.3MMedical Genetics Training GrantT32GM007454 · NIGMS · UNIVERSITY OF WASHINGTON · PI Gail Pairitz Jarvik, Andrew Ben Stergachis · 1985 to 2026
$6.9MMOLECULAR GENETIC BASIS OF CYCLIC HEMATOPOIESISR01DK058161 · NIDDK · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 2000 to 2011
$3.8MGenomic Approaches to Defining Inherited Basis of Childhood CancerR01CA138836 · NCI · BAYLOR COLLEGE OF MEDICINE · PI PLON, SHARON E. · 2010 to 2012
$1.7MCIHRNCI NIH HHS P30 CA008748NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA138836NIDDK NIH HHS R01 DK058161NIDDK NIH HHS R01DK58161NIGMS NIH HHS K12 GM084897NIGMS NIH HHS T32 GM007454NIGMS NIH HHS T32GM007454
Abstract
Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL), but inherited mutations of PAX5 have not previously been described. Here we report a new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL. Leukemic cells from all affected individuals in both families exhibited 9p deletion, with loss of heterozygosity and retention of the mutant PAX5 allele at 9p13. Two additional sporadic ALL cases with 9p loss harbored somatic PAX5 substitutions affecting Gly183. Functional and gene expression analysis of the PAX5 mutation demonstrated that it had significantly reduced transcriptional activity. These data extend the role of PAX5 alterations in the pathogenesis of pre-B cell ALL and implicate PAX5 in a new syndrome of susceptibility to pre-B cell neoplasia.
Indexed as
Genetic Predisposition to DiseaseGerm-Line MutationHumansPAX5 Transcription FactorPolymorphism, Single NucleotidePrecursor B-Cell Lymphoblastic Leukemia-LymphomaPAX5 protein, humanPAX5 Transcription Factor
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