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Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Overview of attention for article published in Familial Cancer, January 2016
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  • Above-average Attention Score compared to outputs of the same age (52nd percentile)
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Mentioned by

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4 tweeters

Citations

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26 Dimensions

Readers on

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42 Mendeley
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Title
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis
Published in
Familial Cancer, January 2016
DOI 10.1007/s10689-016-9870-z
Pubmed ID
Authors

Isabel Spier, Martin Kerick, Dmitriy Drichel, Sukanya Horpaopan, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Ronja Adam, Bixiao Zhao, Tim Becker, Richard P. Lifton, Elke Holinski-Feder, Sven Perner, Holger Thiele, Markus M. Nöthen, Per Hoffmann, Bernd Timmermann, Michal R. Schweiger, Stefan Aretz

Abstract

In up to 30 % of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, and POLE or POLD1, causing Polymerase-Proofreading-associated polyposis can be identified, although a hereditary etiology is likely. To uncover new causative genes, exome sequencing was performed using DNA from leukocytes and a total of 12 colorectal adenomas from seven unrelated patients with unexplained sporadic adenomatous polyposis. For data analysis and variant filtering, an established bioinformatics pipeline including in-house tools was applied. Variants were filtered for rare truncating point mutations and copy-number variants assuming a dominant, recessive, or tumor suppressor model of inheritance. Subsequently, targeted sequence analysis of the most promising candidate genes was performed in a validation cohort of 191 unrelated patients. All relevant variants were validated by Sanger sequencing. The analysis of exome sequencing data resulted in the identification of rare loss-of-function germline mutations in three promising candidate genes (DSC2, PIEZO1, ZSWIM7). In the validation cohort, further variants predicted to be pathogenic were identified in DSC2 and PIEZO1. According to the somatic mutation spectra, the adenomas in this patient cohort follow the classical pathways of colorectal tumorigenesis. The present study identified three candidate genes which might represent rare causes for a predisposition to colorectal adenoma formation. Especially PIEZO1 (FAM38A) and ZSWIM7 (SWS1) warrant further exploration. To evaluate the clinical relevance of these genes, investigation of larger patient cohorts and functional studies are required.

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 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 1 2%
Unknown 41 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 9 21%
Researcher 9 21%
Student > Master 6 14%
Unspecified 5 12%
Student > Bachelor 4 10%
Other 9 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 17 40%
Agricultural and Biological Sciences 10 24%
Unspecified 7 17%
Medicine and Dentistry 4 10%
Computer Science 1 2%
Other 3 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 20 January 2016.
All research outputs
#7,098,722
of 12,340,143 outputs
Outputs from Familial Cancer
#173
of 349 outputs
Outputs of similar age
#150,473
of 339,860 outputs
Outputs of similar age from Familial Cancer
#17
of 30 outputs
Altmetric has tracked 12,340,143 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 349 research outputs from this source. They receive a mean Attention Score of 3.2. This one is in the 46th percentile – i.e., 46% 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 339,860 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 52% of its contemporaries.
We're also able to compare this research output to 30 others from the same source and published within six weeks on either side of this one. This one is in the 40th percentile – i.e., 40% of its contemporaries scored the same or lower than it.