Evidence map›Paper›PMID 18236172›Full record

ArticleFamilial cancer2008

Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.

H R Murphy, R Armstrong, D Cairns, K L Greenhalgh

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Familial cancer, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

8 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Article
  3. Biology of colorectal cancer.Ecancermedicalscience · 2015
    Review
  4. Skin lesions with Lynch syndrome could represent Muir-Torre syndrome.International journal of colorectal disease · 2014
    Article
  5. [Sebaceous gland tumor with a rare gene mutation within a tumor syndrome: Muir-Torre syndrome].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2014
    Article
  6. Extracolonic manifestations of lynch syndrome.Clinics in colon and rectal surgery · 2012
    Article
  7. Article
  8. 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

4 authors at 3 institutions in 1 country.

H R MurphyCheshire and Merseyside Medical Genetics Service, Liverpool Womens Hospital NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK. hmurphy@liv.ac.uk
R Armstrong
D Cairns
K L Greenhalgh
University of Liverpool · GBLiverpool Womens NHS Foundation Trust · GBRoyal Liverpool University Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.

Indexed as

MutationAdaptor Proteins, Signal TransducingAdenocarcinoma, SebaceousDNA Mismatch RepairGenotypeHumansMaleMiddle AgedMuir-Torre SyndromeMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPedigreePhenotypeRisk FactorsAdaptor Proteins, Signal TransducingMLH1 protein, humanMSH2 protein, humanMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear Proteins

Identifiers

PMID18236172
OpenAlexW1991698715

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.