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Next-generation sequencing in familial breast cancer patients from Lebanon

Overview of attention for article published in BMC Medical Genomics, February 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (54th percentile)

Mentioned by

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6 tweeters

Citations

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20 Dimensions

Readers on

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47 Mendeley
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Title
Next-generation sequencing in familial breast cancer patients from Lebanon
Published in
BMC Medical Genomics, February 2017
DOI 10.1186/s12920-017-0244-7
Pubmed ID
Authors

Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J. Marafie, Mohamed R. Al-Mulla, Fahd Al-Mulla, Andre Megarbane, Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J. Marafie, Mohamed R. Al-Mulla, Fahd Al-Mulla, Andre Megarbane

Abstract

Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16-40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported prevalence of BRCA1 and BRCA2 deleterious mutations (5.6% and 12.5%) were lower than those reported in the literature. In the presented study, 45 Lebanese patients with a reported family history of BC were tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation. Nineteen pathogenic mutations were identified in this study. These 19 mutations were found in 13 different genes such as: ABCC12, APC, ATM, BRCA1, BRCA2, CDH1, ERCC6, MSH2, POLH, PRF1, SLX4, STK11 and TP53. In this first application of WES on BC in Lebanon, we detected six BRCA1 and BRCA2 deleterious mutations in seven patients, with a total prevalence of 15.5%, a figure that is lower than those reported in the Western literature. The p.C44F mutation in the BRCA1 gene appeared twice in this study, suggesting a founder effect. Importantly, the overall mutation prevalence was equal to 40%, justifying the urgent need to deploy WES for the identification of genetic variants responsible for familial BC in the Lebanese population.

Twitter Demographics

The data shown below were collected from the profiles of 6 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 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 47 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 10 21%
Researcher 6 13%
Student > Bachelor 5 11%
Student > Ph. D. Student 5 11%
Professor > Associate Professor 4 9%
Other 13 28%
Unknown 4 9%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 32%
Agricultural and Biological Sciences 11 23%
Medicine and Dentistry 9 19%
Chemical Engineering 1 2%
Pharmacology, Toxicology and Pharmaceutical Science 1 2%
Other 4 9%
Unknown 6 13%

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 26 February 2017.
All research outputs
#8,596,401
of 15,919,321 outputs
Outputs from BMC Medical Genomics
#355
of 838 outputs
Outputs of similar age
#117,769
of 263,304 outputs
Outputs of similar age from BMC Medical Genomics
#1
of 2 outputs
Altmetric has tracked 15,919,321 research outputs across all sources so far. This one is in the 45th percentile – i.e., 45% of other outputs scored the same or lower than it.
So far Altmetric has tracked 838 research outputs from this source. They receive a mean Attention Score of 4.7. This one has gotten more attention than average, scoring higher than 55% of its peers.
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 263,304 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 54% of its contemporaries.
We're also able to compare this research output to 2 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