| Title |
Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant
|
|---|---|
| Published in |
Familial Cancer, June 2018
|
| DOI | 10.1007/s10689-018-0094-2 |
| Pubmed ID | |
| Authors |
Maria De Bonis, Angelo Minucci, Giovanni Luca Scaglione, Elisa De Paolis, Gianfranco Zannoni, Giovanni Scambia, Ettore Capoluongo |
| Abstract |
Despite some populations show a wide spectrum of different BRCA pathogenic variants (PVs), particular ethnic groups carry at high frequency a single or a few recurrent PVs, usually due to a founder effect. The identification of these founder PVs, with simple molecular methods, improves BRCA1/2 testing and cancer risk assessment. In this study, we developed a rapid and reliable PCR method, coupled with capillary electrophoresis (CE) for genotyping the Italian founder BRCA1 c.4964_4982del19 (rs80359876) variant. In addition, we compared the performance of two CE platforms: (Agilent 2100 Bioanalyzer and the Experion Automated Electrophoresis system) to identify this variant. Our findings suggest that CE represents a simple and standardized diagnostic strategy for the unambiguously identification of the BRCA1 c.4964_4982del19 variant, on both germline and somatic DNA samples. The results and performance obtained by two platforms are absolutely superimposable in terms of specificity and sensitivity, as well as for their feasibility, time of analysis and costs. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Taiwan | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 24 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 4 | 17% |
| Researcher | 3 | 13% |
| Student > Postgraduate | 3 | 13% |
| Student > Doctoral Student | 1 | 4% |
| Student > Bachelor | 1 | 4% |
| Other | 4 | 17% |
| Unknown | 8 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 25% |
| Medicine and Dentistry | 2 | 8% |
| Chemistry | 2 | 8% |
| Unspecified | 1 | 4% |
| Immunology and Microbiology | 1 | 4% |
| Other | 3 | 13% |
| Unknown | 9 | 38% |
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 27 June 2018.
All research outputs
#15,538,060
of 23,092,602 outputs
Outputs from Familial Cancer
#341
of 567 outputs
Outputs of similar age
#209,054
of 328,686 outputs
Outputs of similar age from Familial Cancer
#4
of 10 outputs
Altmetric has tracked 23,092,602 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 567 research outputs from this source. They receive a mean Attention Score of 4.2. This one is in the 30th percentile – i.e., 30% 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 328,686 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 6 of them.