Evidence map›Paper›PMID 26001790›Full record

ArticleHaematologica2015

BRCC3 mutations in myeloid neoplasms.

Dayong Huang, Yasunobu Nagata, Vera Grossmann, Tomas Radivoyevitch, Yusuke Okuno, Genta Nagae, Naoko Hosono, Susanne Schnittger, Masashi Sanada, Bartlomiej Przychodzen and 26 more

Open access · goldAbstract read
In one paragraph

Article in Haematologica, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

20 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. Review
  3. Deubiquitylating Enzymes in Hepatocellular Carcinoma.International journal of biological sciences · 2025
    Review
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  5. Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Genetic basis of myelodysplastic syndromes.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2020
    Review
  15. Article
  16. Article
  17. Article
  18. Somatic SETBP1 mutations in myeloid neoplasms.International journal of hematology · 2017
    Review
  19. Article
  20. 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

36 authors at 9 institutions in 5 countries.

Dayong HuangDepartment of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing, China Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Yasunobu NagataDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Vera GrossmannMunich Leukemia Laboratory (MLL), Germany.
Tomas RadivoyevitchDepartment of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, OH, USA.
Yusuke OkunoDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Genta NagaeGenome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Japan.
Naoko HosonoDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Susanne SchnittgerMunich Leukemia Laboratory (MLL), Germany.
Masashi SanadaDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Bartlomiej PrzychodzenDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Ayana KonDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Chantana PolprasertDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Wenyi ShenDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Michael J ClementeDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
James G PhillipsDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA.
Tamara AlpermannMunich Leukemia Laboratory (MLL), Germany.
Kenichi YoshidaDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Niroshan NadarajahMunich Leukemia Laboratory (MLL), Germany.
Mikkael A SekeresLeukemia Program, Taussig Cancer Institute, Cleveland Clinic, OH, USA.
Kevin OakleyDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Nhu NguyenDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Yuichi ShiraishiLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Yusuke ShiozawaDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Kenichi ChibaLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Hiroko TanakaLaboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
H Phillip KoefflerDepartment of Hematology/Oncology, Cedars-Sinai Medical Center, Los Angeles, CA, USA Cancer Science Institute of Singapore, National University of Singapore.
Hans-Ulrich KleinInstitute of Medical Informatics, University of Münster, Germany.
Martin DugasInstitute of Medical Informatics, University of Münster, Germany.
Hiroyuki AburataniGenome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Japan.
Satoru MiyanoLaboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Japan.
Claudia HaferlachMunich Leukemia Laboratory (MLL), Germany.
Wolfgang KernMunich Leukemia Laboratory (MLL), Germany.
Torsten HaferlachMunich Leukemia Laboratory (MLL), Germany.
Yang DuDepartment of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Seishi OgawaDepartment of Pathology and Tumor Biology, Kyoto University, Japan.
Hideki MakishimaDepartment of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH, USA Department of Pathology and Tumor Biology, Kyoto University, Japan makishimah@gmail.com.
Kyoto University · JPCleveland Clinic · USMunich Leukemia Laboratory (Germany) · DEThe University of Tokyo · JPUniformed Services University of the Health Sciences · USUniversity of Münster · DEBeijing Friendship Hospital · CNCleveland Clinic Lerner College of Medicine · USNational University of Singapore · SG

Funding

Role of Setbp1 in leukemic stem cell self-renewalR01CA143193 · NCI · HENRY M. JACKSON FDN FOR THE ADV MIL/MED · PI DU, YANG · 2010 to 2014
$1.5M
NCI NIH HHS R01 CA-143193NCI NIH HHS R01 CA143193
6 · The paper itself

Abstract

Next generation sequencing technologies have provided insights into the molecular heterogeneity of various myeloid neoplasms, revealing previously unknown somatic genetic events. In our cohort of 1444 cases analyzed by next generation sequencing, somatic mutations in the gene BRCA1-BRCA2-containing complex 3 (BRCC3) were identified in 28 cases (1.9%). BRCC3 is a member of the JAMM/MPN+ family of zinc metalloproteases capable of cleaving Lys-63 linked polyubiquitin chains, and is implicated in DNA repair. The mutations were located throughout its coding region. The average variant allelic frequency of BRCC3 mutations was 30.1%, and by a serial sample analysis at two different time points a BRCC3 mutation was already identified in the initial stage of a myelodysplastic syndrome. BRCC3 mutations commonly occurred in nonsense (n=12), frameshift (n=4), and splice site (n=5) configurations. Due to the marginal male dominance (odds ratio; 2.00, 0.84-4.73) of BRCC3 mutations, the majority of mutations (n=23; 82%) were hemizygous. Phenotypically, BRCC3 mutations were frequently observed in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms and associated with -Y abnormality (odds ratio; 3.70, 1.25-11.0). Clinically, BRCC3 mutations were also related to higher age (P=0.01), although prognosis was not affected. Knockdown of Brcc3 gene expression in murine bone marrow lineage negative, Sca1 positive, c-kit positive cells resulted in 2-fold more colony formation and modest differentiation defect. Thus, BRCC3 likely plays a role as tumor-associated gene in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Indexed as

MutationAgedAged, 80 and overAllelesAnimalsBRCA1 ProteinChromosome AberrationsDeubiquitinating EnzymesDNA Mutational AnalysisFemaleGene FrequencyGene Knockdown TechniquesGenetic Association StudiesGenotypeHumansMaleBRCA1 ProteinBRCC3 protein, humanDeubiquitinating EnzymesMembrane ProteinsRNA, Small Interfering

Identifiers

PMID26001790
PMCPMC5004421
OpenAlexW2234270799

What OpenQuestion holds

Textmetadata
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.