Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

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...

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Bibliographic Details
Main Authors: Marcella Nunziato, Flavio Starnone, Barbara Lombardo, Matilde Pensabene, Caterina Condello, Francesco Verdesca, Chiara Carlomagno, Sabino De Placido, Lucio Pastore, Francesco Salvatore, Valeria D’Argenio
Format: Article
Language:English
Published: MDPI AG 2017-11-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary breast cancer
BRCA2
large genomic rearrangements
next generation sequencing
aCGH
Online Access:https://www.mdpi.com/1422-0067/18/11/2487

Internet

https://www.mdpi.com/1422-0067/18/11/2487

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