Evidence map›Paper›PMID 27081527›Full record

ArticleHuman genome variation2015

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Douglas Taupin, Wesley Lam, David Rangiah, Larissa McCallum, Belinda Whittle, Yafei Zhang, Daniel Andrews, Matthew Field, Christopher C Goodnow, Matthew C Cook

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2015. 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
2.0field-weighted citation impact, top 13% 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, 56 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023
    Article
  10. Review
  11. Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022
    Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Review
  18. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021
    Review
  19. Review
  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

10 authors at 2 institutions in 1 country.

Douglas TaupinCancer Research, The Canberra Hospital, Canberra, ACT, Australia; Gastroenterology and Hepatology Unit, The Canberra Hospital, Canberra, ACT, Australia.
Wesley LamTranslational Research Unit, Canberra Hospital , Canberra, ACT, Australia.
David RangiahDepartment of Surgery, The Canberra Hospital , Canberra, ACT, Australia.
Larissa McCallumGastroenterology and Hepatology Unit, The Canberra Hospital , Canberra, ACT, Australia.
Belinda WhittleAustralian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
Yafei ZhangAustralian Phenomics Facility, Australian National University , Canberra, ACT, Australia.
Daniel AndrewsAustralian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Matthew FieldAustralian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Christopher C GoodnowAustralian Phenomics Facility, Australian National University, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Matthew C CookTranslational Research Unit, Canberra Hospital, Canberra, ACT, Australia; Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
Australian National University · AUCanberra Hospital · AU

Funding

Systems Biology CoreU19AI100627 · NIAID · SCRIPPS RESEARCH INSTITUTE, THE · PI NOLAN, GARRY P · 2012 to 2021
$49.1M
NIAID NIH HHS U19 AI100627
6 · The paper itself

Abstract

We report a germline nonsense mutation within the extracellular domain of the RING finger ubiquitin ligase RNF43, segregating with a severe form of serrated polyposis within a kindred. The finding provides evidence that inherited RNF43 mutations define a familial cancer syndrome.

Identifiers

PMID27081527
PMCPMC4785559
OpenAlexW2315651448

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.