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High Frequency Strand Slippage Mutations in CTCF in MSI‐Positive Endometrial Cancers

Overview of attention for article published in Human Mutation, November 2013
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Title
High Frequency Strand Slippage Mutations in CTCF in MSI‐Positive Endometrial Cancers
Published in
Human Mutation, November 2013
DOI 10.1002/humu.22463
Pubmed ID
Authors

Israel Zighelboim, David G. Mutch, Amy Knapp, Li Ding, Mingchao Xie, David E. Cohn, Paul J. Goodfellow

Abstract

Tumors with defective mismatch repair acquire large numbers of strand slippage mutations including frameshifts in coding sequence repeats. We identified a mutational hotspot, p.T204fs, in the insulator-binding protein (CTCF) in MSI-positive endometrial cancers. Although CTCF was described as a significantly mutated gene by the endometrial cancer TCGA, the A₇ track variants leading to T204 frameshifts were not reported. Reanalysis of TCGA data using Pindel revealed frequent T204fs mutations, confirming CTCF is an MSI target gene and revealed the same frameshifts in tumors with intact mismatch repair. We show that T204fs transcripts are subject to nonsense-mediated decay and as such, T204fs mutations are unlikely to act as dominant negatives. The spectrum and pattern of mutations observed is consistent with CTCF acting as a haploinsufficient tumor suppressor.

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X Demographics

The data shown below were collected from the profiles of 2 X users 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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 5%
Unknown 20 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 19%
Other 3 14%
Researcher 3 14%
Student > Master 3 14%
Student > Bachelor 2 10%
Other 0 0%
Unknown 6 29%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 33%
Agricultural and Biological Sciences 3 14%
Computer Science 1 5%
Physics and Astronomy 1 5%
Medicine and Dentistry 1 5%
Other 0 0%
Unknown 8 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 01 October 2018.
All research outputs
#19,944,091
of 25,373,627 outputs
Outputs from Human Mutation
#2,519
of 2,982 outputs
Outputs of similar age
#165,013
of 229,119 outputs
Outputs of similar age from Human Mutation
#36
of 43 outputs
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