Evidence map›Paper›PMID 26503472›Full record

ArticleOncotarget2015

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.

Rossella Tricarico, Salvatore Cortellino, Antonio Riccio, Shantie Jagmohan-Changur, Heleen Van der Klift, Juul Wijnen, David Turner, Andrea Ventura, Valentina Rovella, Antonio Percesepe and 15 more

Open access · diamondAbstract read
In one paragraph

Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
2.0field-weighted citation impact, top 14% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Meta-analysis of the association betweenThe Journal of international medical research · 2024
    Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Oncotarget · 2017
    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

25 authors at 15 institutions in 5 countries.

Rossella TricaricoCancer Epigenetics and Cancer Biology Programs, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Salvatore CortellinoIFOM-FIRC Institute of Molecular Oncology, Milan, Italy.
Antonio RiccioDepartment of Cardiology, Boston Children's Hospital, Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, United States of America.
Shantie Jagmohan-ChangurDepartment of Pathology, Erasmus Medical Center Cancer Institute, Rotterdam, The Netherlands.
Heleen Van der KliftDepartment of Clinical Genetics and Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Juul WijnenDepartment of Clinical Genetics and Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
David TurnerDepartment of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina, United States of America.
Andrea VenturaCancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York City, New York, United States of America.
Valentina RovellaDepartment of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
Antonio PercesepeMedical Genetics Unit, Department of Mother & Child, University Hospital of Modena, Modena, Italy.
Emanuela Lucci-CordiscoInstitute of Medical Genetics, Catholic University of the Sacred Heart, "A. Gemelli" School of Medicine, Rome, Italy.
Paolo RadiceDepartment of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
Lucio BertarioDepartment of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
Monica PedroniDepartment of Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
Maurizio Ponz de LeonDepartment of Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
Pietro MancusoCancer Epigenetics and Cancer Biology Programs, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Karthik DevarajanDepartment of Biostatistics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Kathy Q CaiDepartment of Pathology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Andres J P Klein-SzantoDepartment of Pathology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Giovanni NeriInstitute of Medical Genetics, Catholic University of the Sacred Heart, "A. Gemelli" School of Medicine, Rome, Italy.
Pål MøllerInherited Cancer Research Group, Department for Medical Genetics, The Norwegian Radium Hospital, University Hospital, Oslo, Norway.
Alessandra VielExperimental Oncology 1, CRO Aviano, National Cancer Institute, Aviano (PN), Italy.
Maurizio GenuardiInstitute of Medical Genetics, Catholic University of the Sacred Heart, "A. Gemelli" School of Medicine, Rome, Italy.
Riccardo FoddeDepartment of Pathology, Erasmus Medical Center Cancer Institute, Rotterdam, The Netherlands.
Alfonso BellacosaCancer Epigenetics and Cancer Biology Programs, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Fox Chase Cancer Center · USErasmus MC Cancer Institute · NLFondazione IRCCS Istituto Nazionale dei Tumori · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Modena and Reggio Emilia · ITCentro di Riferimento Oncologico · ITFIRC Institute of Molecular Oncology · ITHarvard University · USLeiden University Medical Center · NLMedical University of South Carolina · USMemorial Sloan Kettering Cancer Center · USNorwegian Cancer Society · NOUniversity of Rome Tor Vergata · ITUniversity of Siena · ITUniversity of the Sacred Heart · JP

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
WORD PROCESSING CENTER--COREP30CA006927 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI Margaret von Mehren · 1985 to 2026
$138.8M
The MED1 Protein in DNA Damage Response and RepairR01CA078412 · NCI · RESEARCH INST OF FOX CHASE CAN CTR · PI BELLACOSA, ALFONSO · 2004 to 2014
$3.7M
NEW HUMAN DNA REPAIR ENDONUCLEASER29CA078412 · NCI · FOX CHASE CANCER CENTER · PI BELLACOSA, ALFONSO · 1998 to 2002
$619k
NCI NIH HHS CA06927NCI NIH HHS CA078412NCI NIH HHS P30 CA006927NCI NIH HHS P30 CA008748NCI NIH HHS R01 CA078412NCI NIH HHS R29 CA078412
6 · The paper itself

Abstract

The DNA glycosylase gene MBD4 safeguards genomic stability at CpG sites and is frequently mutated at coding poly-A tracks in mismatch repair (MMR)-defective colorectal tumors (CRC). Mbd4 biallelic inactivation in mice provided conflicting results as to its role in tumorigenesis. Thus, it is unclear whether MBD4 alterations are only secondary to MMR defects without functional consequences or can contribute to the mutator phenotype. We investigated MBD4 variants in a large series of hereditary/familial and sporadic CRC cases. Whereas MBD4 frameshifts were only detected in tumors, missense variants were found in both normal and tumor DNA. In CRC with double-MBD4/MMR and single-MBD4 variants, transition mutation frequency was increased, indicating that MBD4 defects may affect the mutational landscape independently of MMR defect. Mbd4-deficient mice showed reduced survival when combined with Mlh1-/- genotype. Taken together, these data suggest that MBD4 inactivation may contribute to tumorigenesis, acting as a modifier of MMR-deficient cancer phenotype.

Indexed as

AnimalsCarcinogenesisColorectal NeoplasmsDNA Mismatch RepairDNA Mutational AnalysisEndodeoxyribonucleasesFemaleHumansMaleMiceMice, KnockoutMutationOligonucleotide Array Sequence AnalysisPhenotypePolymerase Chain ReactionEndodeoxyribonucleasesMBD4 protein, humanMbd4 protein, mousecolorectal cancerHNPCCMBD4/MED1mismatch repairmutations

Identifiers

PMID26503472
PMCPMC4767479
OpenAlexW2210787844

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.