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Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer

Overview of attention for article published in BMC Clinical Pathology, November 2015
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  • Among the highest-scoring outputs from this source (#24 of 116)
  • Good Attention Score compared to outputs of the same age (70th percentile)

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Title
Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer
Published in
BMC Clinical Pathology, November 2015
DOI 10.1186/s12907-015-0020-6
Pubmed ID
Authors

Ruza Arsenic, Denise Treue, Annika Lehmann, Michael Hummel, Manfred Dietel, Carsten Denkert, Jan Budczies

Abstract

Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha, PIK3CA, is one of the most frequently mutated genes in breast cancer, and the mutation status of PIK3CA has clinical relevance related to response to therapy. The aim of our study was to investigate the mutation status of PIK3CA gene and to evaluate the concordance between NGS and SGS for the most important hotspot regions in exon 9 and 20, to investigate additional hotspots outside of these exons using NGS, and to correlate the PIK3CA mutation status with the clinicopathological characteristics of the cohort. In the current study, next-generation sequencing (NGS) and Sanger Sequencing (SGS) was used for the mutational analysis of PIK3CA in 186 breast carcinomas. Altogether, 64 tumors had PIK3CA mutations, 55 of these mutations occurred in exons 9 and 20. Out of these 55 mutations, 52 could also be detected by Sanger sequencing resulting in a concordance of 98.4 % between the two sequencing methods. The three mutations missed by SGS had low variant frequencies below 10 %. Additionally, 4.8 % of the tumors had mutations in exons 1, 4, 7, and 13 of PIK3CA that were not detected by SGS. PIK3CA mutation status was significantly associated with hormone receptor-positivity, HER2-negativity, tumor grade, and lymph node involvement. However, there was no statistically significant association between the PIK3CA mutation status and overall survival. Based on our study, NGS is recommended as follows: 1) for correctly assessing the mutation status of PIK3CA in breast cancer, especially for cases with low tumor content, 2) for the detection of subclonal mutations, and 3) for simultaneous mutation detection in multiple exons.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 152 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 152 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 25 16%
Student > Master 21 14%
Student > Ph. D. Student 15 10%
Researcher 11 7%
Other 9 6%
Other 22 14%
Unknown 49 32%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 37 24%
Medicine and Dentistry 27 18%
Agricultural and Biological Sciences 24 16%
Immunology and Microbiology 2 1%
Computer Science 1 <1%
Other 3 2%
Unknown 58 38%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 June 2022.
All research outputs
#6,963,366
of 22,833,393 outputs
Outputs from BMC Clinical Pathology
#24
of 116 outputs
Outputs of similar age
#108,802
of 386,431 outputs
Outputs of similar age from BMC Clinical Pathology
#2
of 3 outputs
Altmetric has tracked 22,833,393 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 116 research outputs from this source. They receive a mean Attention Score of 3.9. This one has done well, scoring higher than 75% 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 386,431 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 70% of its contemporaries.
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.