Evidence map›Paper›PMID 22076464›Full record

ArticleLeukemia2012

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.

E Ellinghaus, M Stanulla, G Richter, D Ellinghaus, G te Kronnie, G Cario, G Cazzaniga, M Horstmann, R Panzer Grümayer, H Cavé and 17 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Leukemia, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 4 pooled it
10.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

65 citing papers in PubMed, 4 syntheses or guidelines pooled it, 134 citations in OpenAlex.

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  7. Characterization of Genetic Etiologic Factors for Pediatric Acute Lymphoblastic Leukemia in Large Childhood Cancer Survivorship Cohorts.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026
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5 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

27 authors at 15 institutions in 7 countries.

E EllinghausInstitute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Kiel, Germany.
M Stanulla
G Richter
D Ellinghaus
G te Kronnie
G Cario
G Cazzaniga
M Horstmann
R Panzer Grümayer
H Cavé
J Trka
O Cinek
A Teigler-Schlegel
A ElSharawy
R Häsler
A Nebel
B Meissner
T Bartram
F Lescai
C Franceschi
M Giordan
P Nürnberg
B Heinzow
M Zimmermann
S Schreiber
M Schrappe
A Franke
Kiel University · DEUniversity Hospital Schleswig-Holstein · DECharles University · CZUniversity of Padua · ITHôpital Robert-Debré · FRMedizinische Hochschule Hannover · DESt Anna Children's Hospital · ATThe University of Notre Dame Australia · AUUniversity College London · GBUniversity Medical Center Hamburg-Eppendorf · DEUniversity of Bologna · ITUniversity of Cologne · DEUniversity of Giessen · DEUniversity of Lübeck · DEUniversity of Milano-Bicocca · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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 ETV6-RUNX1 gene fusion. The eight most strongly associated SNPs were followed-up in 951 ETV6-RUNX1-positive cases and 3061 controls from Germany/Austria and Italy, respectively. We identified a novel, genome-wide significant risk locus at 3q28 (TP63, rs17505102, P(CMH)=8.94 × 10(-9), OR=0.65). The separate analysis of the combined German/Austrian sample only, revealed additional genome-wide significant associations at 11q11 (OR8U8, rs1945213, P=9.14 × 10(-11), OR=0.69) and 8p21.3 (near INTS10, rs920590, P=6.12 × 10(-9), OR=1.36). These associations and another association at 11p11.2 (PTPRJ, rs3942852, P=4.95 × 10(-7), 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 ETV6-RUNX1-positive childhood ALL. The identification of TP63 and PTPRJ as susceptibility genes emphasize the role of the TP53 gene family and the importance of proteins regulating cellular processes in connection with tumorigenesis.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationCase-Control StudiesChildChromosomes, Human, Pair 3Core Binding Factor Alpha 2 SubunitETS Translocation Variant 6 ProteinGenome-Wide Association StudyHumansPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaProto-Oncogene Proteins c-etsQuantitative Trait LociRepressor ProteinsCore Binding Factor Alpha 2 SubunitETS Translocation Variant 6 ProteinProto-Oncogene Proteins c-etsRepressor ProteinsRUNX1 protein, human

Identifiers

PMID22076464
PMCPMC3356560
OpenAlexW1994769604

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.