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A Chinese family affected by lynch syndrome caused by MLH1 mutation

Overview of attention for article published in BMC Medical Genetics, June 2018
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Mentioned by

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3 tweeters

Citations

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2 Dimensions

Readers on

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17 Mendeley
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Title
A Chinese family affected by lynch syndrome caused by MLH1 mutation
Published in
BMC Medical Genetics, June 2018
DOI 10.1186/s12881-018-0605-x
Pubmed ID
Authors

Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li, Jiafu Ji

Abstract

Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3-5% of colorectal cancer. The risks of several types of cancer are greatly increased among individuals with LS. In this study, 4 members of a Chinese family with a MLH1 pathogenic variant, resulting in colonic carcinoma, was reported. A 52-year-old colon cancer female was brought to us with a family history of colon cancer. Genetic counseling traced 4 members in her family with colon cancer (mother and 3 siblings including the proband) as well as other cancer types. Next generation sequencing (NGS) with a multiple gene panel including MMR genes showed a germline mutation in MLH1 (c.1852_1854delAAG, p.K618del) in all 3 affected family members and confirmed the diagnosis of Lynch syndrome. In addition, this mutation was also identified in a asymptomatic offspring, who was then recommended to a prophylactic measure against cancer. A personalized health care plan was implemented for monitoring the condition and progression of the affected individuals. Based on public database searching followed by pedigree verification, p.K618del variant in MLH1 is a pathogenic mutation, which supported the diagnosis of LS. This case highlights the importance of diagnosis and management in patients with hereditary cancer syndromes, particularly for asymptomatic family members.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 2 12%
Student > Bachelor 1 6%
Lecturer 1 6%
Student > Ph. D. Student 1 6%
Librarian 1 6%
Other 1 6%
Unknown 10 59%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 12%
Agricultural and Biological Sciences 2 12%
Medicine and Dentistry 2 12%
Social Sciences 1 6%
Neuroscience 1 6%
Other 0 0%
Unknown 9 53%

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 25 June 2018.
All research outputs
#12,498,722
of 19,010,680 outputs
Outputs from BMC Medical Genetics
#462
of 980 outputs
Outputs of similar age
#177,146
of 289,013 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 19,010,680 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 980 research outputs from this source. They receive a mean Attention Score of 3.6. This one is in the 43rd percentile – i.e., 43% 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 289,013 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them