Evidence map›Paper›PMID 37434947›Full record

ArticleGynecologic oncology reports2023

Lynch syndrome-associated endometrial cancer patient with a rare novel germline likely pathogenic variant of MSH2 gene: A case report.

L Zumstein, V Tuninetti, M Vaira, D Siatis, F Palermo, M Petracchini, G Scotto, M Turinetto, R Piva, B Pasini and 1 more

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

Article in Gynecologic oncology reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed, 0 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

11 authors at 4 institutions in 1 country.

L ZumsteinDepartment of Oncology, University of Turin, Turin, Italy.
V TuninettiDepartment of Oncology, University of Turin, Medical Oncology, Ordine Mauriziano Hospital.
M VairaDepartment of Surgical Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Turin, Italy.
D SiatisDepartment of Surgical Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Turin, Italy.
F PalermoDepartment of Oncology, Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Turin, Italy.
M PetracchiniDepartment of Radiology, Umberto I Mauriziano Hospital, Turin, Italy.
G ScottoDepartment of Oncology, University of Turin, Turin, Italy.
M TurinettoDepartment of Oncology, University of Turin, Turin, Italy.
R PivaDepartment of Molecular Biotechnology and Health Sciences, University of Turin, 10126 Turin, Italy.
B PasiniMedical Genetics Unit at the AOU Città della Salute e della Scienza di Torino, Italy.
G ValabregaDepartment of Oncology, University of Turin, Medical Oncology, Ordine Mauriziano Hospital.
A. O. Ordine Mauriziano di Torino · ITCandiolo Cancer Institute · ITUniversity of Turin · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Lynch syndrome (LS) is an autosomal dominant condition usually characterized by germline pathogenic variants in DNA mismatch repair (MMR) genes. Despite the guidelines now available, determining the pathogenicity of rare variants remains challenging, as the clinical significance of a genetic variant could be uncertain, but it may represent a disease-associated variation in the aforementioned genes. In this case report we will describe the case of a 47 years-old female affected by endometrial cancer (EC) with an extremely rare germline heterozygous variant in the MSH2 gene (c.562G > T p. (Glu188Ter), exon 3) that is likely pathogenic, and a family history consistent with LS.

Indexed as

Endometrial cancerGermline Likely Pathogenic VariantLynch syndromeMSH2

Identifiers

PMID37434947
PMCPMC10331303
OpenAlexW4380992305

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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.