Evidence map›Paper›PMID 27996046›Full record

ArticleNature communications2016

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.

Kevin Litchfield, Max Levy, Darshna Dudakia, Paula Proszek, Claire Shipley, Sander Basten, Elizabeth Rapley, D Timothy Bishop, Alison Reid, Robert Huddart and 6 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 1 pooled it
6.6field-weighted citation impact, top 3% 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

29 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.

  1. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020
    Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Zebrafish as a model system for studying reproductive diseases.Frontiers in cell and developmental biology · 2024
    Review
  7. Further Association of GermlineJournal of clinical medicine · 2023
    Article
  8. Testicular mixed germ cell tumor: A case report.World journal of clinical cases · 2023
    Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Review
  16. Review
  17. Genetics of testicular germ cell tumors.Current opinion in urology · 2019
    Review
  18. Testicular germ cell tumor: a comprehensive review.Cellular and molecular life sciences : CMLS · 2019
    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

16 authors at 5 institutions in 2 countries.

Kevin LitchfieldDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
Max LevyDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
Darshna DudakiaDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
Paula ProszekCentre for Molecular Pathology, The Royal Marsden NHS Foundation Trust, London SM2 5NG, UK.
Claire ShipleyCentre for Molecular Pathology, The Royal Marsden NHS Foundation Trust, London SM2 5NG, UK.
Sander BastenDepartment of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Uppsalalaan 6, Utrecht 3584CT, The Netherlands.
Elizabeth RapleyDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
D Timothy BishopSection of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Leeds LS9 7TF, UK.ORCID 0000-0002-8752-8785
Alison Reid
Robert Huddart
Peter BroderickDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.ORCID 0000-0002-8348-5829
David Gonzalez de CastroCentre for Molecular Pathology, The Royal Marsden NHS Foundation Trust, London SM2 5NG, UK.
Simon O'ConnorCentre for Molecular Pathology, The Royal Marsden NHS Foundation Trust, London SM2 5NG, UK.
Rachel H GilesDepartment of Nephrology and Hypertension, Regenerative Medicine Center Utrecht, University Medical Center Utrecht, Uppsalalaan 6, Utrecht 3584CT, The Netherlands.ORCID 0000-0001-9133-2008
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
Clare TurnbullDivision of Genetics and Epidemiology, The Institute of Cancer Research, London SM2 5NG, UK.
Institute of Cancer Research · GBRoyal Marsden NHS Foundation Trust · GBUtrecht University · NLQueen's University Belfast · GBUniversity of Leeds · GB

Funding

Cancer Research UK 10589Cancer Research UK 19167Medical Research Council MR/L01629X/1
6 · The paper itself

Abstract

Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases and 1,644 controls. We search for genes that are recurrently affected by rare variants (minor allele frequency <0.01) with potentially damaging effects and evidence of segregation in families. A total of 8.7% of TGCT families carry rare disruptive mutations in the cilia-microtubule genes (CMG) as compared with 0.5% of controls (P=2.1 × 10

Indexed as

MutationAnimalsCiliaDisease Models, AnimalExome SequencingFemaleGenetic Predisposition to DiseaseHumansLoss of HeterozygosityMaleMicrotubule-Associated ProteinsMiddle AgedNeoplasms, Germ Cell and EmbryonalPedigreeRisk FactorsTesticular NeoplasmsDNAAF1 protein, humanMicrotubule-Associated Proteins

Identifiers

PMID27996046
PMCPMC5187424
OpenAlexW2564683320

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.