Evidence map›Paper›PMID 36360190›Full record

ArticleGenes2022

Biallelic

Monica Pedroni, Maurizio Ponz de Leon, Luca Reggiani Bonetti, Giuseppina Rossi, Alessandra Viel, Emanuele Damiano Luca Urso, Luca Roncucci

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 50% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 3 institutions in 1 country.

Monica PedroniDepartment of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Via Del Pozzo 71, 41125 Modena, Italy.
Maurizio Ponz de LeonDepartment of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Via Del Pozzo 71, 41125 Modena, Italy.
Luca Reggiani BonettiDepartment of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Via Del Pozzo 71, 41125 Modena, Italy.
Giuseppina RossiDepartment of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Via Del Pozzo 71, 41125 Modena, Italy.
Alessandra VielDivision of Functional Onco-Genomics and Genetics, Centro di Riferimento Oncologico di Aviano, IRCCS, Via Gallini 2, 33081 Aviano, Italy.ORCID 0000-0003-2804-0840
Emanuele Damiano Luca UrsoSurgery 3, Department of Surgical, Oncological and Gastroenterological Sciences, University of Padua, Via Giustiniani 1, 25128 Padua, Italy.
Luca RoncucciDepartment of Medical and Surgical Sciences, University of Modena and Reggio Emilia, Via Del Pozzo 71, 41125 Modena, Italy.ORCID 0000-0002-0410-1760
University of Modena and Reggio Emilia · ITCentro di Riferimento Oncologico · ITUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a patient with constitutional mismatch repair-deficiency (CMMR-D) in whom the syndrome started at age 10 with the development of multiple adenomas in the large bowel. In the successive 25 years, four malignancies developed in different organs (rectum, ileum, duodenum, and lymphoid tissue). The patient had biallelic constitutional pathogenic variants in the

Indexed as

DNA Repair EnzymesNeoplastic Syndromes, HereditaryAdenosine TriphosphatasesBrain NeoplasmsColorectal NeoplasmsDNA-Binding ProteinsHumansMaleMicrosatellite InstabilityMismatch Repair Endonuclease PMS2Adenosine TriphosphatasesDNA-Binding ProteinsDNA Repair EnzymesMismatch Repair Endonuclease PMS2PMS2 protein, humancancerCMMR-DcolonPMS2 geneVUS

Identifiers

PMID36360190
PMCPMC9690098
OpenAlexW4307551729

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.