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José Luis Costa, Sónia Sousa, Ana Justino, Teresa Kay, Susana Fernandes, Luis Cirnes, Fernando Schmitt and José Carlos Machado Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting Human Mutation 34

Version of Record online: 11 FEB 2013 | DOI: 10.1002/humu.22272

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In this study, using the Ion Torrent PGM, we present a comprehensive MPS-Sanger sequencing based strategy for the molecular diagnosis of hereditary breast and ovarian cancer and respective analytical validation. The methodology relies on multiplex PCR amplification of the BRCA1 and BRCA2 genes combined with a dedicated variant prioritization pipeline. The workflow resulted in a strategy with a high analytical sensitivity (≥98.6%) that provides a time- and cost-effective strategy for the identification of mutations in the BRCA1 and BRCA2 genes.

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