Evidence map›Paper›PMID 31142279›Full record

ArticleBMC cancer2019

The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution.

Adrián Mosquera Orgueira, Beatriz Antelo Rodríguez, Natalia Alonso Vence, José Ángel Díaz Arias, Nicolás Díaz Varela, Manuel Mateo Pérez Encinas, Catarina Allegue Toscano, Elena María Goiricelaya Seco, Ángel Carracedo Álvarez, José Luis Bello López

Abstract read
In one paragraph

Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Review
  2. Article
  3. Overview of Research on Germline Genetic Variation in Immune Genes and Cancer Outcomes.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022
    Article
  4. Germline Variants That Affect Tumor Progression.Trends in genetics : TIG · 2021
    Review
  5. Article
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

10 authors.

Adrián Mosquera OrgueiraClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain. adrian.mosquera@live.com.ORCID http://orcid.org/0000-0003-4838-6750
Beatriz Antelo RodríguezClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.
Natalia Alonso VenceClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.
José Ángel Díaz AriasClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.
Nicolás Díaz VarelaDivision of Hematology, SERGAS, Complexo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago, Spain.
Manuel Mateo Pérez EncinasClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.
Catarina Allegue ToscanoUniversity of Santiago de Compostela, Santiago, Spain.
Elena María Goiricelaya SecoUniversity of Santiago de Compostela, Santiago, Spain.
Ángel Carracedo ÁlvarezClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.
José Luis Bello LópezClinical University Hospital of Santiago de Compostela, Service of Hematology and Hemotherapy, 1st floor, Avenida da Choupana s/n, Santiago de Compostela, 15706, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChronic Lymphocytic Leukemia (CLL) is the most frequent lymphoproliferative disorder in western countries and is characterized by a remarkable clinical heterogeneity. During the last decade, multiple genomic studies have identified a myriad of somatic events driving CLL proliferation and aggressivity. Nevertheless, and despite the mounting evidence of inherited risk for CLL development, the existence of germline variants associated with clinical outcomes has not been addressed in depth.

methodsExome sequencing data from control leukocytes of CLL patients involved in the International Cancer Genome Consortium (ICGC) was used for genotyping. Cox regression was used to detect variants associated with clinical outcomes. Gene and pathways level associations were also calculated.

resultsSingle nucleotide polymorphisms in PPP4R2 and MAP3K4 were associated with earlier treatment need. A gene-level analysis evidenced a significant association of RIPK3 with both treatment need and survival. Furthermore, germline variability in pathways such as apoptosis, cell-cycle, pentose phosphate, GNα13 and Nitric oxide was associated with overall survival.

conclusionOur results support the existence of inherited conditionants of CLL evolution and points towards genes and pathways that may results useful as biomarkers of disease outcome. More research is needed to validate these findings.

Indexed as

Germ-Line MutationBiomarkers, TumorExome SequencingFemaleGene Regulatory NetworksGenetic Predisposition to DiseaseGTP-Binding Protein alpha Subunits, G12-G13HumansLeukemia, Lymphocytic, Chronic, B-CellMaleMAP Kinase Kinase Kinase 4Phosphoprotein PhosphatasesSurvival AnalysisBiomarkers, TumorGNA13 protein, humanGTP-Binding Protein alpha Subunits, G12-G13MAP3K4 protein, humanMAP Kinase Kinase Kinase 4Phosphoprotein Phosphatasesprotein phosphatase 4AssociationChronic lymphocytic leukemiaGermlinePolymorphismPrognosis

Identifiers

PMID31142279
PMCPMC6542042

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.