A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations

Concetta Santonocito, Giovanni Scambia, Paola Concolino, Angelo Minucci, Vanda Salutari, Cecilia Zuppi, Ettore Domenico Capoluongo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

15 Citazioni (Scopus)

Abstract

Background: Recent advances in next generation sequencing (NGS) technology have enabled comprehensive and accurate screening of the entire genomic region of BRCA1/2 genes and, to date, many studies report the effectiveness of these technologies. Here we show that Gene Scan (GS) labeling Quality Control (QC), performed before massive parallel pyrosequencing, coupled with Multiple Amplicon Quantification software (MAQ-S) analysis is a rapid and powerful tool in the detection of deleterious BRCA mutations carried by different patients. Methods: GS labeling QC assay was performed according to the manufacturers' instructions and MAQ-S software was employed for analysis results. Results: GS labeling QC was able to detect 14 different BRCA frameshift mutations in our patients. In addition, two novel BRCA mutations (c.1893_1894in5TTAAGCCCACAAAT in BRCA1 gene and c.9413_9414insT in BRCA2 gene) were identified. Conclusion: We prove that a simple QC step may represent a valid and useful tool for a rapid detection of frameshift mutations in BRCA genes. For this reason, we recommend using this approach before massive parallel sequencing. (C) 2014 Elsevier B.V. All rights reserved.
Lingua originaleEnglish
pagine (da-a)72-77
Numero di pagine6
RivistaClinica Chimica Acta
Volume437
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • BRCA1-2
  • Frameshift mutations

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