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Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review

Overview of attention for article published in Hereditary Cancer in Clinical Practice, August 2013
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (59th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

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4 tweeters

Citations

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59 Dimensions

Readers on

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104 Mendeley
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Title
Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review
Published in
Hereditary Cancer in Clinical Practice, August 2013
DOI 10.1186/1897-4287-11-9
Pubmed ID
Authors

Katarzyna Tutlewska, Jan Lubinski, Grzegorz Kurzawski

Abstract

Lynch syndrome (clinically referred to as HNPCC - Hereditary Non-Polyposis Colorectal Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome caused by various germline alterations that affect DNA mismatch repair genes, mainly MLH1 and MSH2. Patients inheriting this predisposition are susceptible to colorectal, endometrial and other extracolonic tumors. It has recently been shown that germline deletions of the last few exons of the EPCAM gene are involved in the etiology of Lynch syndrome. Such constitutional mutations lead to subsequent epigenetic silencing of a neighbouring gene, here, MSH2, causing Lynch syndrome. Thus, deletions of the last few exons of EPCAM constitute a distinct class of mutations associated with HNPCC. Worldwide, several investigators have reported families with EPCAM 3'end deletions. The risk of colorectal cancer in carriers of EPCAM deletions is comparable to situations when patients are MSH2 mutation carriers, and is associated with high expression levels of EPCAM in colorectal cancer stem cells. A lower risk of endometrial cancer was also reported. Until now the standard diagnostic tests for Lynch syndrome have contained analyses such as immunohistochemistry and tests for microsatellite instability of mismatch repair genes. The identification of EPCAM deletions or larger EPCAM-MSH2 deletions should be included in routine mutation screening, as this has implications for cancer predisposition.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 104 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Austria 1 <1%
Brazil 1 <1%
South Africa 1 <1%
Iran, Islamic Republic of 1 <1%
Spain 1 <1%
Unknown 99 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 24 23%
Student > Ph. D. Student 19 18%
Student > Master 17 16%
Other 9 9%
Student > Bachelor 8 8%
Other 17 16%
Unknown 10 10%
Readers by discipline Count As %
Medicine and Dentistry 35 34%
Biochemistry, Genetics and Molecular Biology 29 28%
Agricultural and Biological Sciences 22 21%
Computer Science 2 2%
Veterinary Science and Veterinary Medicine 1 <1%
Other 5 5%
Unknown 10 10%

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 12 January 2019.
All research outputs
#7,278,595
of 14,125,937 outputs
Outputs from Hereditary Cancer in Clinical Practice
#51
of 152 outputs
Outputs of similar age
#62,818
of 160,121 outputs
Outputs of similar age from Hereditary Cancer in Clinical Practice
#1
of 5 outputs
Altmetric has tracked 14,125,937 research outputs across all sources so far. This one is in the 47th percentile – i.e., 47% of other outputs scored the same or lower than it.
So far Altmetric has tracked 152 research outputs from this source. They receive a mean Attention Score of 2.7. This one has gotten more attention than average, scoring higher than 65% of its peers.
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 160,121 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 59% of its contemporaries.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them