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Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with e...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713453/ https://www.ncbi.nlm.nih.gov/pubmed/29165356 http://dx.doi.org/10.3390/ijms18112487 |
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author | Nunziato, Marcella Starnone, Flavio Lombardo, Barbara Pensabene, Matilde Condello, Caterina Verdesca, Francesco Carlomagno, Chiara De Placido, Sabino Pastore, Lucio Salvatore, Francesco D’Argenio, Valeria |
author_facet | Nunziato, Marcella Starnone, Flavio Lombardo, Barbara Pensabene, Matilde Condello, Caterina Verdesca, Francesco Carlomagno, Chiara De Placido, Sabino Pastore, Lucio Salvatore, Francesco D’Argenio, Valeria |
author_sort | Nunziato, Marcella |
collection | PubMed |
description | The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. |
format | Online Article Text |
id | pubmed-5713453 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-57134532017-12-07 Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report Nunziato, Marcella Starnone, Flavio Lombardo, Barbara Pensabene, Matilde Condello, Caterina Verdesca, Francesco Carlomagno, Chiara De Placido, Sabino Pastore, Lucio Salvatore, Francesco D’Argenio, Valeria Int J Mol Sci Case Report The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. MDPI 2017-11-22 /pmc/articles/PMC5713453/ /pubmed/29165356 http://dx.doi.org/10.3390/ijms18112487 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Nunziato, Marcella Starnone, Flavio Lombardo, Barbara Pensabene, Matilde Condello, Caterina Verdesca, Francesco Carlomagno, Chiara De Placido, Sabino Pastore, Lucio Salvatore, Francesco D’Argenio, Valeria Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title | Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title_full | Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title_fullStr | Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title_full_unstemmed | Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title_short | Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
title_sort | fast detection of a brca2 large genomic duplication by next generation sequencing as a single procedure: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713453/ https://www.ncbi.nlm.nih.gov/pubmed/29165356 http://dx.doi.org/10.3390/ijms18112487 |
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