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Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline
Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includ...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Impact Journals LLC
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154752/ https://www.ncbi.nlm.nih.gov/pubmed/30263092 http://dx.doi.org/10.18632/oncotarget.26000 |
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author | Germani, Aldo Libi, Fabio Maggi, Stefano Stanzani, Gianluca Lombardi, Augusto Pellegrini, Patrizia Mattei, Mauro De Marchis, Laura Amanti, Claudio Pizzuti, Antonio Torrisi, Maria Rosaria Piane, Maria |
author_facet | Germani, Aldo Libi, Fabio Maggi, Stefano Stanzani, Gianluca Lombardi, Augusto Pellegrini, Patrizia Mattei, Mauro De Marchis, Laura Amanti, Claudio Pizzuti, Antonio Torrisi, Maria Rosaria Piane, Maria |
author_sort | Germani, Aldo |
collection | PubMed |
description | Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the Oncomine(TM) BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers. |
format | Online Article Text |
id | pubmed-6154752 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Impact Journals LLC |
record_format | MEDLINE/PubMed |
spelling | pubmed-61547522018-09-27 Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline Germani, Aldo Libi, Fabio Maggi, Stefano Stanzani, Gianluca Lombardi, Augusto Pellegrini, Patrizia Mattei, Mauro De Marchis, Laura Amanti, Claudio Pizzuti, Antonio Torrisi, Maria Rosaria Piane, Maria Oncotarget Research Paper Molecular analysis of BRCA1 (MIM# 604370) and BRCA2 (MIM #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid, cost-effective accurate strategy for the detection of pathogenic variants is crucial. Mutations detection of BRCA1/2 genes includes screening for single nucleotide variants (SNVs), small insertions or deletions (indels), and Copy Number Variations (CNVs). Sanger sequencing is unable to identify CNVs and therefore Multiplex Ligation Probe amplification (MLPA) or Multiplex Amplicon Quantification (MAQ) is used to complete the BRCA1/2 genes analysis. The rapid evolution of Next Generation Sequencing (NGS) technologies allows the search for point mutations and CNVs with a single platform and workflow. In this study we test the possibilities of NGS technology to simultaneously detect point mutations and CNVs in BRCA1/2 genes, using the Oncomine(TM) BRCA Research Assay on Personal Genome Machine (PGM) Platform with Ion Reporter Software for sequencing data analysis (Thermo Fisher Scientific). Comparison between the NGS-CNVs, MLPA and MAQ results shows how the NGS approach is the most complete and fast method for the simultaneous detection of all BRCA mutations, avoiding the usual time consuming multistep approach in the routine diagnostic testing of hereditary breast and ovarian cancers. Impact Journals LLC 2018-09-14 /pmc/articles/PMC6154752/ /pubmed/30263092 http://dx.doi.org/10.18632/oncotarget.26000 Text en Copyright: © 2018 Germani et al. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License 3.0 (http://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Paper Germani, Aldo Libi, Fabio Maggi, Stefano Stanzani, Gianluca Lombardi, Augusto Pellegrini, Patrizia Mattei, Mauro De Marchis, Laura Amanti, Claudio Pizzuti, Antonio Torrisi, Maria Rosaria Piane, Maria Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title | Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title_full | Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title_fullStr | Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title_full_unstemmed | Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title_short | Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
title_sort | rapid detection of copy number variations and point mutations in brca1/2 genes using a single workflow by ion semiconductor sequencing pipeline |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154752/ https://www.ncbi.nlm.nih.gov/pubmed/30263092 http://dx.doi.org/10.18632/oncotarget.26000 |
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