Evidence map›Paper›PMID 29315289›Full record

ArticleBritish journal of cancer2018

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

Diego A Garcia-Dios, Dina Levi, Vandna Shah, Cheryl Gillett, Michael A Simpson, Andrew Hanby, Ian Tomlinson, Elinor J Sawyer

Open access · hybridAbstract read
In one paragraph

Article in British journal of cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
4.7field-weighted citation impact, top 5% 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.

  1. Pooled it
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  6. Article
  7. Article
  8. Review
  9. Review
  10. Periductal Stromal Tumor of the Breast with aInternational journal of surgical pathology · 2023
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  12. Construction and validation of mIET systems biology · 2022
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  13. Genome-wide screens identify specific drivers of mutantProceedings of the National Academy of Sciences of the United States of America · 2022
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  14. Fibroepithelial tumours of the breast-a review.Virchows Archiv : an international journal of pathology · 2022
    Review
  15. Spindle cell lesions of the breast: a diagnostic approach.Virchows Archiv : an international journal of pathology · 2022
    Review
  16. Article
  17. Article
  18. Article
  19. Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021
    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

8 authors at 4 institutions in 1 country.

Diego A Garcia-DiosSchool of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.
Dina LeviSchool of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.
Vandna ShahSchool of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.
Cheryl GillettSchool of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.
Michael A SimpsonMedical and Molecular Genetics, Guy's Hospital, King's College London, London, UK.
Andrew HanbyLeeds Institute of Cancer and Pathology, Cancer Genetics Building, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.
Ian TomlinsonInstitute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
Elinor J SawyerSchool of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.
Guy's Hospital · GBKing's College London · GBSt James's University Hospital · GBUniversity of Birmingham · GB

Funding

Cancer Research UK 16459Department of HealthMedical Research Council MC_PC_14105
6 · The paper itself

Abstract

backgroundMED12 and TERT promoter mutations have been shown to be the most common somatic mutations in phyllodes tumours (PTs). The aims of this study were to determine the frequency of these mutations in recurrent PTs, assess whether TERT promoter mutations could be helpful in distinguishing fibroadenomas (FAs) from PTs and identify novel mutations that may be driving malignant progression.

methodsMED12 and the TERT promoter were Sanger sequenced in 75 primary PTs, 21 recurrences, 19 single FAs and 2 cases of multiple FAs with benign PTs. Whole-exome sequencing was performed on one borderline PT.

resultsRecurrent PTs and multiple FAs showed temporal discordance in MED12 but not TERT. Recurrent samples did acquire TERT mutations, with recurrent benign PTs more likely to have mutations in both genes. TERT mutations were not helpful in differentiating between benign PTs and FAs in cases of multiple FAs/PTs. Exome sequencing revealed a nonsense mutation in RBM15 and Sanger sequencing revealed another three RBM15 mutations in malignant/borderline PTs.

conclusionsThis study has shown that MED12 mutations can be heterogeneous in both synchronous and recurrent PTs unlike TERT mutations. We have also shown that RBM15 mutations may be important in the pathogenesis of borderline/malignant PTs.

Indexed as

MutationAdultBase SequenceBreast NeoplasmsFemaleHumansMediator ComplexNeoplasm Recurrence, LocalPhyllodes TumorPromoter Regions, GeneticRNA-Binding ProteinsTelomeraseYoung AdultMED12 protein, humanMediator ComplexRBM15 protein, humanRNA-Binding ProteinsTelomeraseTERT protein, human

Identifiers

PMID29315289
PMCPMC5785756
OpenAlexW2782838774

What OpenQuestion holds

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LicenceCC BY-NC-SA
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.