Evidence map›Paper›PMID 30132831›Full record

ArticleInternational journal of cancer2018

Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor.

Flora Cimmino, Marianna Avitabile, Sharon J Diskin, Zalman Vaksman, Piero Pignataro, Daniela Formicola, Antonella Cardinale, Alessandro Testori, Jan Koster, Carmen de Torres and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in International journal of cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
5.6field-weighted citation impact, top 4% 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

39 citing papers in PubMed, 56 citations in OpenAlex.

  1. Article
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  10. bioRxiv : the preprint server for biology · 2023
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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

14 authors at 5 institutions in 4 countries.

Flora CimminoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.ORCID 0000-0003-1538-9285
Marianna AvitabileDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Sharon J DiskinDivision of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA.
Zalman VaksmanDivision of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA.
Piero PignataroDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Daniela FormicolaIRCCS SDN, Naples, Italy.
Antonella CardinaleDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Alessandro TestoriDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Jan KosterDepartment of Oncogenomics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Carmen de TorresHospital Sant Joan de Déu, Developmental Tumor Biology Laboratory and Department of Oncology, Esplugues de Llobregat, Barcelona, Spain.
Marcella DevotoDivision of Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
John M MarisDivision of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, PA.
Achille IolasconDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.
Mario CapassoDipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli "Federico II", Naples, Italy.ORCID 0000-0003-3306-1259
Ceinge Biotecnologie Avanzate (Italy) · ITChildren's Hospital of Philadelphia · USSDN Istituto di Ricerca Diagnostica e Nucleare · ITAmsterdam UMC Location University of Amsterdam · NLHospital Sant Joan de Déu Barcelona · ES

Funding

Discovering mechanisms of neuroblastoma tumorigenesis to improve patient outcomesR35CA220500 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI JOHN M MARIS · 2017 to 2026
$8.7M
The Genetic Basis of Neuroblastoma TumorigenesisR01CA124709 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARIS, JOHN M · 2008 to 2017
$6.3M
Role of LMO1 in Neuroblastoma Initiation and MaintenanceR01CA180692 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI LOOK, A. THOMAS, MARIS, JOHN M · 2015 to 2019
$3.0M
NCI NIH HHS R01 CA124709NCI NIH HHS R01 CA180692NCI NIH HHS R35 CA220500NIH HHS R01 CA180692NIH HHS R35 CA220500NIH HHS/United States R01 CA180692NIH HHS/United States R35 CA220500
6 · The paper itself

Abstract

A previous genome-wide association study (GWAS) identified common variation at the BARD1 locus as being highly associated with susceptibility to high-risk neuroblastoma, but the mechanisms underlying this association have been not extensively investigated. Here, we performed a fine mapping analysis of BARD1 locus (2q35) using GWAS data from 556 high-risk neuroblastoma patients and 2,575 controls of European-American ancestry, and identified two independent genome-wide neuroblastoma-associated loci. Functional single-nucleotide polymorphism (SNP) prioritization identified two causative variants that independently contributed to neuroblastoma risk, and each replicated robustly in multiple independent cohorts comprising 445 high-risk cases and 3,170 controls (rs17489363: combined p = 1.07 × 10

Indexed as

AllelesCase-Control StudiesCell Line, TumorCell ProliferationGenes, Tumor SuppressorGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHEK293 CellsHumansInfantNeoplasm InvasivenessNeuroblastomaPolymorphism, Single NucleotidePromoter Regions, GeneticRNA, MessengerBARD1 protein, humanRNA, MessengerTumor Suppressor ProteinsUbiquitin-Protein LigasesBARD1fine mapping.GWASneuroblastomaSNP

Identifiers

PMID30132831
PMCPMC6258207
OpenAlexW2888747066

What OpenQuestion holds

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Registered trials

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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.