↓ Skip to main content

A cryptic paracentric inversion of MSH2 exons 2–6 causes Lynch syndrome

Overview of attention for article published in Carcinogenesis, October 2015
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (52nd percentile)
  • Good Attention Score compared to outputs of the same age and source (68th percentile)

Mentioned by

twitter
4 X users

Citations

dimensions_citation
30 Dimensions

Readers on

mendeley
34 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
A cryptic paracentric inversion of MSH2 exons 2–6 causes Lynch syndrome
Published in
Carcinogenesis, October 2015
DOI 10.1093/carcin/bgv154
Pubmed ID
Authors

Qing Liu, Luke B. Hesson, Andrea C. Nunez, Deborah Packham, Rachel Williams, Robyn L. Ward, Mathew A. Sloane

Abstract

Lynch syndrome is an autosomal dominant disorder that predisposes carriers of DNA mismatch repair (MMR) gene mutations to early-onset cancer. Germline testing screens exons and splice sites for mutations, but does not examine introns or RNA transcripts for alterations. Pathogenic mutations have not been detected in approximately 30 % of suspected Lynch syndrome cases with standard screening practices. We present a 38 year old male with a clinicopathological and family history consistent with Lynch syndrome, including loss of MSH2 expression in his tumor. Germline testing revealed normal MSH2 coding sequence, splice sites and exon copy number, however, cDNA sequencing identified an aberrant MSH2 transcript lacking exons 2 to 6. An inversion PCR on germline DNA identified an approximate 18 kb unbalanced, paracentric inversion within MSH2, with breakpoints in a long terminal repeat in intron 1 and an Alu repeat in intron 6. The 3' end of the inversion had a 1.2 kb deletion and an 8 bp insertion at the junction with intron 6. Screening of 55 additional Australian patients presenting with MSH2-deficient tumors who were negative in germline genetic tests for MSH2 mutations identified another inversion-positive patient. We propose an Alu-mediated recombination model to explain the origin of the inversion. Our study illustrates the potential utility of cDNA screening to identify patients with cryptic MMR gene rearrangements, clarifies why standard testing may not detect some pathogenic alterations, and provides a genetic test for screening individuals with suspected Lynch syndrome that present with unexplained MSH2-deficient tumors.

X Demographics

X Demographics

The data shown below were collected from the profiles of 4 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 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 3%
Unknown 33 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 15%
Student > Ph. D. Student 4 12%
Student > Bachelor 4 12%
Student > Doctoral Student 4 12%
Student > Master 3 9%
Other 9 26%
Unknown 5 15%
Readers by discipline Count As %
Medicine and Dentistry 10 29%
Biochemistry, Genetics and Molecular Biology 8 24%
Agricultural and Biological Sciences 5 15%
Unspecified 2 6%
Nursing and Health Professions 2 6%
Other 2 6%
Unknown 5 15%
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 20 June 2016.
All research outputs
#13,685,294
of 23,613,071 outputs
Outputs from Carcinogenesis
#3,787
of 4,818 outputs
Outputs of similar age
#133,117
of 284,967 outputs
Outputs of similar age from Carcinogenesis
#10
of 32 outputs
Altmetric has tracked 23,613,071 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,818 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.5. This one is in the 21st percentile – i.e., 21% 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 284,967 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 32 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.