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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2

Overview of attention for article published in Nature Communications, May 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Average Attention Score compared to outputs of the same age and source

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Citations

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97 Dimensions

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145 Mendeley
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Title
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2
Published in
Nature Communications, May 2017
DOI 10.1038/ncomms14755
Pubmed ID
Authors

Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L. Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G. Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H. Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C. Pritchard, Albert de la Chapelle, Jon G. Jonasson, Richard M. Goldberg, Kari Stefansson

Abstract

Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations.

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X Demographics

The data shown below were collected from the profiles of 12 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 145 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Russia 1 <1%
Unknown 144 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 26 18%
Student > Master 18 12%
Student > Ph. D. Student 16 11%
Other 13 9%
Student > Bachelor 13 9%
Other 21 14%
Unknown 38 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 38 26%
Medicine and Dentistry 28 19%
Agricultural and Biological Sciences 20 14%
Computer Science 3 2%
Unspecified 2 1%
Other 9 6%
Unknown 45 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 08 May 2020.
All research outputs
#4,055,450
of 22,968,808 outputs
Outputs from Nature Communications
#30,910
of 47,267 outputs
Outputs of similar age
#71,553
of 310,917 outputs
Outputs of similar age from Nature Communications
#687
of 1,029 outputs
Altmetric has tracked 22,968,808 research outputs across all sources so far. Compared to these this one has done well and is in the 82nd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 47,267 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.9. This one is in the 34th percentile – i.e., 34% 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 310,917 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 76% of its contemporaries.
We're also able to compare this research output to 1,029 others from the same source and published within six weeks on either side of this one. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.