↓ Skip to main content

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

Overview of attention for article published in BMC Medical Genomics, May 2015
Altmetric Badge

About this Attention Score

  • Average Attention Score compared to outputs of the same age

Mentioned by

twitter
3 tweeters

Citations

dimensions_citation
29 Dimensions

Readers on

mendeley
40 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
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing
Published in
BMC Medical Genomics, May 2015
DOI 10.1186/s12920-015-0092-2
Pubmed ID
Authors

Anna Kluska, Aneta Balabas, Agnieszka Paziewska, Maria Kulecka, Dorota Nowakowska, Michal Mikula, Jerzy Ostrowski

Abstract

Targeted PCR-based genetic testing for BRCA1 and BRCA2 can be performed at a lower cost than full gene testing; however, it does not detect mutations responsible for familial breast and/or ovarian cancers. In the present study, we report the utility of next generation sequencing (NGS) to identify new pathogenic variants of BRCA1/2. BRCA1 and BRCA2 exons were amplified using the Ion AmpliSeq BRCA1/2 Panel and sequenced on the Ion Torrent PGM sequencer in 512 women with familial and/or only early onset breast and/or ovarian cancers who were negative for selected BRCA1/2 mutations. 146 single nucleotide variants (SNVs) and 32 indels were identified. Of them, 14 SNVs and 17 indels were considered as pathogenic or likely pathogenic. One and 18 pathogenic mutations had been detected previously in the Polish and other populations, respectively, and 12 deleterious mutations were previously unknown. Eight mutations were recurrent; Q563X (BRCA1), N3124I (BRCA2) and c.4516delG (BRCA1) were found in eight, six and four patients, respectively, and two other mutations (c.9118-2A > G and c.7249delCA in BRCA2) were detected in three patients each. Altogether, BRCA1/2 pathogenic mutations were identified in 52 out of 512 (10%) patients. NGS substantially improved the detection rates of a wide spectrum of mutations in Polish patients with familial breast and/or ovarian cancer. Although targeted screening for specific BRCA1 mutations can be offered to all Polish breast or ovarian cancer patients, NGS-based testing is justified in patients with breast or ovarian cancer likely related to BRCA1/2 who test negative for the selected BRCA1/2 pathogenic mutations.

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

Geographical breakdown

Country Count As %
Canada 2 5%
Belarus 1 3%
China 1 3%
Unknown 36 90%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 23%
Researcher 8 20%
Student > Ph. D. Student 5 13%
Student > Bachelor 3 8%
Professor > Associate Professor 2 5%
Other 7 18%
Unknown 6 15%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 30%
Agricultural and Biological Sciences 10 25%
Medicine and Dentistry 8 20%
Environmental Science 1 3%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 1 3%
Unknown 7 18%

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 18 May 2015.
All research outputs
#12,661,636
of 19,214,062 outputs
Outputs from BMC Medical Genomics
#577
of 1,015 outputs
Outputs of similar age
#137,130
of 242,138 outputs
Outputs of similar age from BMC Medical Genomics
#1
of 3 outputs
Altmetric has tracked 19,214,062 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 1,015 research outputs from this source. They receive a mean Attention Score of 4.6. 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 242,138 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 3 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