Evidence map›Paper›PMID 25077178›Full record

ArticleMolecular genetics & genomic medicine2014

Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

Mev Dominguez-Valentin, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels de Wind, Mef Nilbert, Lene Juel Rasmussen

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In one paragraph

Article in Molecular genetics & genomic medicine, 2014. 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
–field-weighted citation impact
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.

  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.

Mev Dominguez-ValentinDepartment of Oncology, Institute for Clinical Sciences, Lund University 22185, Lund, Sweden ; The Danish HNPCC-register, Clinical Research Centre, Hvidovre University Hospital, Copenhagen University Hvidovre, Denmark.
Mark DrostDepartment of Toxicogenetics, Leiden University Medical Center Leiden, The Netherlands.
Christina TherkildsenThe Danish HNPCC-register, Clinical Research Centre, Hvidovre University Hospital, Copenhagen University Hvidovre, Denmark.
Eva RambechDepartment of Oncology, Institute for Clinical Sciences, Lund University 22185, Lund, Sweden.
Hans EhrencronaDepartment of Clinical Genetics, University and Regional Laboratories, Skåne University Hospital, Lund University Lund, Sweden.
Maria AngleysCenter for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen DK-2200, Copenhagen N, Denmark.
Thomas Lau HansenCenter for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen DK-2200, Copenhagen N, Denmark.
Niels de WindDepartment of Toxicogenetics, Leiden University Medical Center Leiden, The Netherlands.
Mef NilbertDepartment of Oncology, Institute for Clinical Sciences, Lund University 22185, Lund, Sweden ; The Danish HNPCC-register, Clinical Research Centre, Hvidovre University Hospital, Copenhagen University Hvidovre, Denmark.
Lene Juel RasmussenCenter for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen DK-2200, Copenhagen N, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In clinical genetic diagnostics, it is difficult to predict whether genetic mutations that do not greatly alter the primary sequence of the encoded protein causing unknown functional effects on cognate proteins lead to development of disease. Here, we report the clinical identification of c.2038 T>C missense mutation in exon 18 of the human MLH1 gene and biochemically characterization of the p.Cys680Arg mutant MLH1 protein to implicate it in the pathogenicity of the Lynch syndrome (LS). We show that the mutation is deficient in DNA mismatch repair and, therefore, contributing to LS in the carriers.

Indexed as

Functional assayLynch syndromemismatch repairMLH1

Identifiers

PMID25077178
PMCPMC4113276

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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.