| Title |
High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
|
|---|---|
| Published in |
Human Genome Variation, June 2018
|
| DOI | 10.1038/s41439-018-0006-x |
| Pubmed ID | |
| Authors |
Alessandra Costella, Rossella De Leo, Donatella Guarino, Marco D’Indinosante, Paola Concolino, Giorgia Mazzuccato, Andrea Urbani, Giovanni Scambia, Ettore Capoluongo, Anna Fagotti, Angelo Minucci |
| Abstract |
In a 72-year-old woman with no associated personal or family history of breast and/or ovarian cancers, we identified a novel somatic pathogenic BRCA2 variant (c.18_28delAGAGAGGCCAA, p.Lys6Asnfs*4) using next-generation sequencing (NGS). The variant allele frequency (VAF) was 16%, and Sanger sequencing was unable to identify this variant. Adopting a high-resolution melting analysis strategy coupled with NGS, we successfully highlighted the presence of the c.18_28delAGAGAGGCCAA allele. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Taiwan | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 12 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 2 | 17% |
| Other | 1 | 8% |
| Researcher | 1 | 8% |
| Professor > Associate Professor | 1 | 8% |
| Student > Postgraduate | 1 | 8% |
| Other | 0 | 0% |
| Unknown | 6 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 17% |
| Biochemistry, Genetics and Molecular Biology | 1 | 8% |
| Psychology | 1 | 8% |
| Business, Management and Accounting | 1 | 8% |
| Unknown | 7 | 58% |
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 15 June 2018.
All research outputs
#15,009,334
of 23,090,520 outputs
Outputs from Human Genome Variation
#73
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Outputs of similar age
#198,206
of 328,957 outputs
Outputs of similar age from Human Genome Variation
#1
of 8 outputs
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