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Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?

Overview of attention for article published in Familial Cancer, January 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#43 of 572)
  • High Attention Score compared to outputs of the same age (87th percentile)
  • High Attention Score compared to outputs of the same age and source (85th percentile)

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1 X user
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3 patents

Citations

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13 Dimensions

Readers on

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23 Mendeley
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Title
Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything?
Published in
Familial Cancer, January 2013
DOI 10.1007/s10689-012-9597-4
Pubmed ID
Authors

Mark Clendenning, Michael D. Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic LeMarchand, Robert Haile, Steve Gallinger, Colorectal Cancer Family Registry, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan

Abstract

Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3' end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3' end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3' deletions in PMS2 are not a frequent occurrence in such families.

X Demographics

X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 23 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 17%
Student > Master 3 13%
Student > Ph. D. Student 3 13%
Student > Doctoral Student 2 9%
Student > Bachelor 2 9%
Other 6 26%
Unknown 3 13%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 26%
Medicine and Dentistry 6 26%
Biochemistry, Genetics and Molecular Biology 4 17%
Social Sciences 2 9%
Nursing and Health Professions 1 4%
Other 0 0%
Unknown 4 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 21 March 2023.
All research outputs
#3,257,419
of 23,572,442 outputs
Outputs from Familial Cancer
#43
of 572 outputs
Outputs of similar age
#34,113
of 284,915 outputs
Outputs of similar age from Familial Cancer
#2
of 14 outputs
Altmetric has tracked 23,572,442 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 572 research outputs from this source. They receive a mean Attention Score of 4.2. This one has done particularly well, scoring higher than 92% 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 284,915 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.