Evidence map›Paper›PMID 25233892›Full record

ArticleNature communications2014

Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes.

Siân Jones, Nicolas Stransky, Christine L McCord, Ethan Cerami, James Lagowski, Devon Kelly, Samuel V Angiuoli, Mark Sausen, Lisa Kann, Manish Shukla and 5 more

Open access · hybridAbstract read
In one paragraph

Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
107citing papers in PubMed, 1 pooled it
13.7field-weighted citation impact, top 1% 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

107 citing papers in PubMed, 1 synthesis or guideline pooled it, 168 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Article
  5. Review
  6. Article
  7. A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025
    Article
  8. Article
  9. Article
  10. An overview of BAP1 biological functions and current therapeutics.Biochimica et biophysica acta. Reviews on cancer · 2025
    Review
  11. Genomics of ovarian cancers and the potential of precision medicine.Therapeutic advances in medical oncology · 2025
    Review
  12. Review
  13. Uterine carcinosarcoma: Unraveling the role of epithelial-to-mesenchymal transition in progression and therapeutic potential.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024
    Review
  14. Review
  15. Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article

47 more citing papers are in PubMed but not listed here.

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

15 authors at 5 institutions in 1 country.

Siân JonesPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Nicolas StranskyBlueprint Medicines, Cambridge, Massachusetts 02142, USA.
Christine L McCordPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Ethan CeramiBlueprint Medicines, Cambridge, Massachusetts 02142, USA.
James LagowskiKnight Cancer Institute, Oregon Health and Science University, Portland, Oregon 97239, USA.
Devon KellyKnight Cancer Institute, Oregon Health and Science University, Portland, Oregon 97239, USA.
Samuel V AngiuoliPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Mark SausenPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Lisa KannPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Manish ShuklaPersonal Genome Diagnostics, Baltimore, Maryland 21224, USA.
Rosemary MakarKnight Cancer Institute, Oregon Health and Science University, Portland, Oregon 97239, USA.
Laura D WoodDepartment of Pathology, Johns Hopkins University, Baltimore, Maryland 21287, USA.
Luis A Diaz1] The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA [2] Swim Across America Laboratory and the Ludwig Center for Cancer Genetics and Therapeutics at Johns Hopkins, Baltimore, Maryland 21287, USA.
Christoph LengauerBlueprint Medicines, Cambridge, Massachusetts 02142, USA.
Victor E VelculescuThe Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Human Genome Sciences (United States) · USBlueprint Medicines (United States) · USOregon Health & Science University · USSidney Kimmel Comprehensive Cancer Center · USJohns Hopkins University · US

Funding

Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6M
Training Program in Cellular and Molecular MedicineT32GM008752 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI RAO, RAJINI · 2000 to 2019
$11.7M
Large-Scale Genetic Analyses of Human CancerR01CA121113 · NCI · JOHNS HOPKINS UNIVERSITY · PI ANAGNOSTOU, VALSAMO, VELCULESCU, VICTOR E. · 2006 to 2022
$4.3M
NCI NIH HHS CA121113NCI NIH HHS P30 CA006973NCI NIH HHS R01 CA121113NIGMS NIH HHS T32 GM008752
6 · The paper itself

Abstract

Malignant mixed Müllerian tumours, also known as carcinosarcomas, are rare tumours of gynaecological origin. Here we perform whole-exome analyses of 22 tumours using massively parallel sequencing to determine the mutational landscape of this tumour type. On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. These findings highlight the importance of the dysregulation of chromatin remodelling in carcinosarcoma tumorigenesis and suggest new avenues for personalized therapy.

Indexed as

MutationAgedAged, 80 and overBromodomain Containing ProteinsCarcinosarcomaChromatinChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDNA Mutational AnalysisDNA RepairExomeFemaleGene LibraryGenes, p53Genes, rasGenital Neoplasms, FemaleARID1A protein, humanARID1B protein, humanBAZ1A protein, humanBromodomain Containing ProteinsChromatinChromosomal Proteins, Non-HistoneDNA-Binding ProteinsKMT2C protein, humanNuclear ProteinsPhosphatidylinositol 3-KinasesRepressor ProteinsSPOP protein, humanTranscription Factors

Identifiers

PMID25233892
PMCPMC4354107
OpenAlexW1991396678

What OpenQuestion holds

Textmetadata
LicenceTDM
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.