Evidence map›Paper›PMID 36624813›Full record

SynthesisHGG advances2023

Unexplained mismatch repair deficiency: Case closed.

Ellis L Eikenboom, Sarah Moen, Lotte van Leeuwen, Willemina R R Geurts-Giele, Carli M J Tops, Tjakko J van Ham, Winand N M Dinjens, Hendrikus J Dubbink, Manon C W Spaander, Anja Wagner

Open access · goldAbstract readSystematic Review
In one paragraph

Synthesis in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 42% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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.

Ellis L EikenboomDepartment of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Sarah MoenDepartment of Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Lotte van LeeuwenDepartment of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Willemina R R Geurts-GieleDepartment of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Carli M J TopsDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Tjakko J van HamDepartment of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Winand N M DinjensDepartment of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Hendrikus J DubbinkDepartment of Pathology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Manon C W SpaanderDepartment of Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Anja WagnerDepartment of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, 3015 CE Rotterdam, the Netherlands.
Erasmus MC Cancer Institute · NLLeiden University Medical Center · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To identify Lynch syndrome (LS) carriers, DNA mismatch repair (MMR) immunohistochemistry (IHC) is performed on colorectal cancers (CRCs). Upon subsequent LS diagnostics, MMR deficiency (MMRd) sometimes remains unexplained (UMMRd). Recently, the importance of complete LS diagnostics to explain UMMRd, involving MMR methylation, germline, and somatic analyses, was stressed. To explore why some MMRd CRCs remain unsolved, we performed a systematic review of the literature and mapped patients with UMMRd diagnosed in our center. A systematic literature search was performed in Ovid Medline, Embase, Web of Science, Cochrane CENTRAL, and Google Scholar for articles on UMMRd CRCs after complete LS diagnostics published until December 15, 2021. Additionally, UMMRd CRCs diagnosed in our center since 1993 were mapped. Of 754 identified articles, 17 were included, covering 74 patients with UMMRd. Five CRCs were microsatellite stable. Upon complete diagnostics, 39 patients had single somatic MMR hits, and six an MMR germline variant of unknown significance (VUS). Ten had somatic pathogenic variants (PVs) in

Indexed as

Brain NeoplasmsColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisNeoplastic Syndromes, HereditaryHumanscolorectal cancergenetic testingLynch syndromeUMMRdunexplained mismatch repair deficiency

Identifiers

PMID36624813
PMCPMC9823207
OpenAlexW4311475638

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.