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Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan

Overview of attention for article published in BMC Cancer, February 2018
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16 Mendeley
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Title
Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan
Published in
BMC Cancer, February 2018
DOI 10.1186/s12885-018-4079-1
Pubmed ID
Authors

Hikmat Abdel-Razeq, Amal Al-Omari, Farah Zahran, Banu Arun

Abstract

Breast cancer is the most common malignancy and the leading cause of cancer-related deaths among Jordanian women. With a median age of 50 years at diagnosis, a higher prevalence of hereditary breast cancer may be expected. The objective of this pilot study is to evaluate, for the first time, the contribution of germline mutations in BRCA1/2 to breast cancer among Jordanian patients. Jordanian breast cancer women with a selected high risk profile were invited to participate. Peripheral blood samples were obtained for DNA extraction. A detailed 3-generation family history was also collected. BRCA sequencing was performed at a reference laboratory. Mutations were classified as deleterious, suspected deleterious, variant of uncertain significance or favor polymorphisms. Patients' medical records were reviewed for extraction of clinical and tumor pathology data. One hundred patients were enrolled to the study. Median age was 40 (22-75) years. In total, 20 patients had deleterious and 7 suspected deleterious mutations in BRCA1 or BRCA2 genes. Seven variants of uncertain significance were also detected. After excluding patients tested subsequent to the index case in their families, highest mutation rates were observed among triple negatives (9/16, 56.3%) especially among those with positive family history of breast and/or ovarian cancer (9/13, 69.2%), patients with bilateral or second primary breast cancer (10/15, 66.7%) and those with family history of male breast cancer (2/5, 40.0%). BRCA1/2 mutations are not uncommon among selected Jordanian females with breast cancer. The contribution of these findings to much younger age at diagnosis is debatable. Although small, our selected patient cohort shows an important incidence of deleterious and suspected deleterious BRCA1/2 mutations suggesting that genetic testing should be offered to patients with certain high risk features.

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 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 16 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 25%
Student > Master 2 13%
Student > Ph. D. Student 2 13%
Librarian 1 6%
Student > Doctoral Student 1 6%
Other 3 19%
Unknown 3 19%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 31%
Nursing and Health Professions 2 13%
Medicine and Dentistry 2 13%
Agricultural and Biological Sciences 1 6%
Sports and Recreations 1 6%
Other 1 6%
Unknown 4 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 February 2018.
All research outputs
#7,204,556
of 12,481,741 outputs
Outputs from BMC Cancer
#1,830
of 4,619 outputs
Outputs of similar age
#165,293
of 340,433 outputs
Outputs of similar age from BMC Cancer
#1
of 4 outputs
Altmetric has tracked 12,481,741 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,619 research outputs from this source. They receive a mean Attention Score of 3.9. This one has gotten more attention than average, scoring higher than 57% 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 340,433 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 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