Evidence map›Paper›PMID 32051441›Full record

ArticleScientific reports2020

Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome.

Adrián Mosquera Orgueira, Beatriz Rodríguez Antelo, José Ángel Díaz Arias, Nicolás Díaz Varela, Natalia Alonso Vence, Marta Sonia González Pérez, José Luis Bello López

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Review
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

7 authors at 2 institutions in 1 country.

Adrián Mosquera OrgueiraHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. adrian.mosquera@live.com.ORCID http://orcid.org/0000-0003-4838-6750
Beatriz Rodríguez AnteloHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
José Ángel Díaz AriasHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
Nicolás Díaz VarelaHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
Natalia Alonso VenceHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
Marta Sonia González PérezHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
José Luis Bello LópezHealth Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
Complejo Hospitalario Universitario de Santiago · ESUniversidade de Santiago de Compostela · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in non-coding DNA regions are increasingly recognized as cancer drivers. These mutations can modify gene expression in cis or by inducing high-order chormatin structure modifications with long-range effects. Previous analysis reported the detection of recurrent and functional non-coding DNA mutations in the chronic lymphocytic leukemia (CLL) genome, such as those in the 3' untranslated region of NOTCH1 and in the PAX5 super-enhancer. In this report, we used whole genome sequencing data produced by the International Cancer Genome Consortium in order to analyze regions with previously reported regulatory activity. This approach enabled the identification of numerous recurrently mutated regions that were frequently positioned in the proximity of genes involved in immune and oncogenic pathways. By correlating these mutations with expression of their nearest genes, we detected significant transcriptional changes in genes such as PHF2 and S1PR2. More research is needed to clarify the function of these mutations in CLL, particularly those found in intergenic regions.

Indexed as

MutationRegulatory Sequences, Nucleic Acid3' Untranslated RegionsDNA, IntergenicDNA Mutational AnalysisHomeodomain ProteinsHumansLeukemia, Lymphocytic, Chronic, B-CellPAX5 Transcription FactorReceptor, Notch1Sphingosine-1-Phosphate ReceptorsWhole Genome Sequencing3' Untranslated RegionsDNA, IntergenicHomeodomain ProteinsNOTCH1 protein, humanPAX5 protein, humanPAX5 Transcription FactorPHF2 protein, humanReceptor, Notch1S1PR2 protein, humanSphingosine-1-Phosphate Receptors

Identifiers

PMID32051441
PMCPMC7015923
OpenAlexW3006577311

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.