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Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing
Joint Authors
Baena, Neus
Saigí, Eugeni
Yagüe, Carmen
Ruiz, Anna
Seguí, Miquel A.
Torra, Montse
Guitart, Miriam
Brunet, Anna
Llort, Gemma
Viñas, Marina
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-06-26
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
High throughput methods such as next generation sequencing are increasingly used in molecular diagnosis.
The aim of this study was to develop a workflow for the detection of BRCA1 and BRCA2 mutations using massive parallel sequencing in a 454 GS Junior bench top sequencer.
Our approach was first validated in a panel of 23 patients containing 62 unique variants that had been previously Sanger sequenced.
Subsequently, 101 patients with familial breast and ovarian cancer were studied.
BRCA1 and BRCA2 exon enrichment has been performed by PCR amplification using the BRCA MASTR kit (Multiplicom).
Bioinformatic analysis of reads is performed with the AVA software v2.7 (Roche).
In total, all 62 variants were detected resulting in a sensitivity of 100%.
71 false positives were called resulting in a specificity of 97.35%.
All of them correspond to deletions located in homopolymeric stretches.
The analysis of the homopolymers stretches of 6 bp or longer using the BRCA HP kit (Multiplicom) increased the specificity of the detection of BRCA1 and BRCA2 mutations to 99.99%.
We show here that massive parallel pyrosequencing can be used as a diagnostic strategy to test for BRCA1 and BRCA2 mutations meeting very stringent sensitivity and specificity parameters replacing traditional Sanger sequencing with a lower cost.
American Psychological Association (APA)
Ruiz, Anna& Llort, Gemma& Yagüe, Carmen& Baena, Neus& Viñas, Marina& Torra, Montse…[et al.]. 2014. Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing. BioMed Research International،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-480108
Modern Language Association (MLA)
Ruiz, Anna…[et al.]. Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing. BioMed Research International No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-480108
American Medical Association (AMA)
Ruiz, Anna& Llort, Gemma& Yagüe, Carmen& Baena, Neus& Viñas, Marina& Torra, Montse…[et al.]. Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-480108
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-480108