Evidence map›Paper›PMID 26947005›Full record

ArticleGenetics research2016

Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.

James Ziai, Ellen Matloff, Jaehyuk Choi, Ninani Kombo, Miguel Materin, Allen E Bale

Open access · bronzeAbstract read
In one paragraph

Article in Genetics research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 19% 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

5 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022
    Review
  4. Article
  5. 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

6 authors at 1 institution in 1 country.

James ZiaiDepartment of Pathology,Yale School of Medicine,New Haven,CT,USA.
Ellen MatloffDepartment of Genetics,Yale School of Medicine,New Haven,CT,USA.
Jaehyuk ChoiDepartment of Dermatology,Yale School of Medicine,New Haven,CT,USA.
Ninani KomboDepartment of Ophthalmology,Yale School of Medicine,New Haven,CT,USA.
Miguel MaterinDepartment of Ophthalmology,Yale School of Medicine,New Haven,CT,USA.
Allen E BaleDepartment of Genetics,Yale School of Medicine,New Haven,CT,USA.
Yale University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.

Indexed as

Gene DuplicationAdenomatous Polyposis ColiAdultFemaleGenetic CounselingGenetic TestingHumansIntercellular Signaling Peptides and ProteinsJewsMalePhenotypeYoung AdultGREM1 protein, humanIntercellular Signaling Peptides and Proteins

Identifiers

PMID26947005
PMCPMC6865171
OpenAlexW2295867516

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.