↓ Skip to main content

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

Overview of attention for article published in European Journal of Human Genetics, May 2005
Altmetric Badge

Mentioned by

wikipedia
1 Wikipedia page

Citations

dimensions_citation
30 Dimensions

Readers on

mendeley
15 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes
Published in
European Journal of Human Genetics, May 2005
DOI 10.1038/sj.ejhg.5201421
Pubmed ID
Authors

Maria Wehner, Elisabeth Mangold, Marlies Sengteller, Nicolaus Friedrichs, Stefan Aretz, Waltraut Friedl, Peter Propping, Constanze Pagenstecher

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by a deficiency in DNA mismatch repair in consequence of germline mutations mainly in the genes MSH2 and MLH1. Around 10% of patients suspected of HNPCC are identified with large genomic deletions that cannot be detected by conventional methods of mutation screening. The recently developed multiplex ligation-dependent probe amplification (MLPA) proved to be an easy to perform method for deletion detection and is reliable when more than one exon is deleted. We show that, in some cases, apparent deletions of single exons may actually result from single base substitutions or small insertions/deletions in the hybridisation sequence of MLPA probes. We conclude that single exon deletions, detected by MLPA or multiplex PCR, should be validated with additional methods.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 20%
Student > Bachelor 3 20%
Lecturer 1 7%
Other 1 7%
Lecturer > Senior Lecturer 1 7%
Other 4 27%
Unknown 2 13%
Readers by discipline Count As %
Medicine and Dentistry 6 40%
Agricultural and Biological Sciences 4 27%
Biochemistry, Genetics and Molecular Biology 2 13%
Pharmacology, Toxicology and Pharmaceutical Science 1 7%
Unknown 2 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 June 2008.
All research outputs
#7,453,827
of 22,787,797 outputs
Outputs from European Journal of Human Genetics
#1,768
of 3,432 outputs
Outputs of similar age
#20,326
of 57,978 outputs
Outputs of similar age from European Journal of Human Genetics
#6
of 21 outputs
Altmetric has tracked 22,787,797 research outputs across all sources so far. This one is in the 44th percentile – i.e., 44% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,432 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.8. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 57,978 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 13th percentile – i.e., 13% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one is in the 14th percentile – i.e., 14% of its contemporaries scored the same or lower than it.