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

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 sequenci...

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Autores principales: Costella, Alessandra, De Leo, Rossella, Guarino, Donatella, D’Indinosante, Marco, Concolino, Paola, Mazzuccato, Giorgia, Urbani, Andrea, Scambia, Giovanni, Capoluongo, Ettore, Fagotti, Anna, Minucci, Angelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993729/
https://www.ncbi.nlm.nih.gov/pubmed/29899995
http://dx.doi.org/10.1038/s41439-018-0006-x
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author Costella, Alessandra
De Leo, Rossella
Guarino, Donatella
D’Indinosante, Marco
Concolino, Paola
Mazzuccato, Giorgia
Urbani, Andrea
Scambia, Giovanni
Capoluongo, Ettore
Fagotti, Anna
Minucci, Angelo
author_facet Costella, Alessandra
De Leo, Rossella
Guarino, Donatella
D’Indinosante, Marco
Concolino, Paola
Mazzuccato, Giorgia
Urbani, Andrea
Scambia, Giovanni
Capoluongo, Ettore
Fagotti, Anna
Minucci, Angelo
author_sort Costella, Alessandra
collection PubMed
description 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.
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spelling pubmed-59937292018-06-13 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 Costella, Alessandra De Leo, Rossella Guarino, Donatella D’Indinosante, Marco Concolino, Paola Mazzuccato, Giorgia Urbani, Andrea Scambia, Giovanni Capoluongo, Ettore Fagotti, Anna Minucci, Angelo Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-06-08 /pmc/articles/PMC5993729/ /pubmed/29899995 http://dx.doi.org/10.1038/s41439-018-0006-x Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Costella, Alessandra
De Leo, Rossella
Guarino, Donatella
D’Indinosante, Marco
Concolino, Paola
Mazzuccato, Giorgia
Urbani, Andrea
Scambia, Giovanni
Capoluongo, Ettore
Fagotti, Anna
Minucci, Angelo
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993729/
https://www.ncbi.nlm.nih.gov/pubmed/29899995
http://dx.doi.org/10.1038/s41439-018-0006-x
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