Journal
CLINICA CHIMICA ACTA
Volume 446, Issue -, Pages 221-225Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cca.2015.03.045
Keywords
BRCA1; BRCA2; Next-generation sequencing; Molecular diagnostics; dHPLC; Method comparison in molecular diagnostics
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Funding
- Protocollo d'intesa Regione Campania-CEINGE (D.C.) [11]
- Ministry of University and Research [PON01_02589]
- Grant POR Campania FSE from the Regione Campania, Italy
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Background: Accurate and sensitive detection of BRCA1/2 germ-line mutations is crucial for the clinical management of women affected by breast cancer, for prevention and, notably, also for the identification of at-risk healthy relatives. The most widely used methods for BRCA1/2 molecular analysis are Sanger sequencing, and denaturing high performance liquid chromatography (dHPLC) followed by the Sanger method. However, recent findings suggest that next-generation sequencing (NGS)-based approaches may be an efficient tool for diagnostic purposes. In this context, we evaluated the effectiveness of NGS for BRCA gene analysis compared with dHPLC/Sanger sequencing. Methods: Seventy women were screened for BRCA1/2 mutations by both dHPLC/Sanger sequencing and NGS, and the data were analyzed using a bioinformatic pipeline. Results: Sequence data analysis showed that NGS is more sensitive in detecting BRCA1/2 variants than the conventional procedure, namely, dHPLC/Sanger. Conclusion: Next-generation sequencing is more sensitive, faster, easier to use and less expensive than the conventional Sanger method. Consequently, it is a reliable procedure for the routine molecular screening of the BRCA1/2 genes. (C) 2015 The Authors. Published by Elsevier B.V.
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