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BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer

Overview of attention for article published in BMC Cancer, November 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (80th percentile)
  • High Attention Score compared to outputs of the same age and source (87th percentile)

Mentioned by

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7 tweeters
wikipedia
1 Wikipedia page

Citations

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27 Dimensions

Readers on

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86 Mendeley
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Title
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer
Published in
BMC Cancer, November 2015
DOI 10.1186/s12885-015-1913-6
Pubmed ID
Authors

F. Z. Francies, T. Wainstein, K. De Leeneer, A. Cairns, M. Murdoch, S. Nietz, H. Cubasch, B. Poppe, T. Van Maerken, B. Crombez, I. Coene, R. Kerr, J. P. Slabbert, A. Vral, A. Krause, A. Baeyens, K. B. M. Claes

Abstract

Current knowledge of the aetiology of hereditary breast cancer in the four main South African population groups (black, coloured, Indian and white) is limited. Risk assessments in the black, coloured and Indian population groups are challenging because of restricted information regarding the underlying genetic contributions to inherited breast cancer in these populations. We focused this study on premenopausal patients (diagnosed with breast cancer before the age of 50; n = 78) and triple negative breast cancer (TNBC) patients (n = 30) from the four South African ethnic groups. The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients. In total, 108 South African breast cancer patients underwent mutation screening using a Next-Generation Sequencing (NGS) approach in combination with Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large rearrangements in BRCA1 and BRCA2. In 13 (12 %) patients a deleterious mutation in BRCA1/2 was detected, three of which were novel mutations in black patients. None of the study participants was found to have an unequivocal pathogenic mutation in PALB2. Two (white) patients tested positive for the CHEK2 c.1100delC mutation, however, one of these also carried a deleterious BRCA2 mutation. Additionally, six variants of unknown clinical significance were identified (4 in BRCA2, 2 in PALB2), all in black patients. Within the group of TNBC patients, a higher mutation frequency was obtained (23.3 %; 7/30) than in the group of patients diagnosed before the age of 50 (7.7 %; 6/78). This study highlights the importance of evaluating germline mutations in major breast cancer genes in all of the South African population groups. This NGS study shows that mutation analysis is warranted in South African patients with triple negative and/or in premenopausal breast cancer.

Twitter Demographics

The data shown below were collected from the profiles of 7 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 86 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 86 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 15 17%
Student > Postgraduate 10 12%
Researcher 10 12%
Student > Ph. D. Student 9 10%
Student > Doctoral Student 6 7%
Other 21 24%
Unknown 15 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 28 33%
Medicine and Dentistry 21 24%
Agricultural and Biological Sciences 9 10%
Nursing and Health Professions 3 3%
Social Sciences 3 3%
Other 6 7%
Unknown 16 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 7. 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 29 September 2019.
All research outputs
#2,935,435
of 15,934,888 outputs
Outputs from BMC Cancer
#731
of 5,915 outputs
Outputs of similar age
#71,088
of 362,198 outputs
Outputs of similar age from BMC Cancer
#92
of 764 outputs
Altmetric has tracked 15,934,888 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,915 research outputs from this source. They receive a mean Attention Score of 4.1. This one has done well, scoring higher than 87% 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 362,198 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 80% of its contemporaries.
We're also able to compare this research output to 764 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.