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.
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches / D'Argenio, V., Esposito, M.V., Telese, A., Precone, V., Starnone, F., Nunziato, M., Cantiello, P., Iorio, M., Evangelista, E., D'Aiuto, M., Calabrese, A., Frisso, G., D'Aiuto, G., Salvatore, F.. - In: CLINICA CHIMICA ACTA. - ISSN 0009-8981. - 446:(2015), pp. 221-225. [10.1016/j.cca.2015.03.045]
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
D'ARGENIO, VALERIA;ESPOSITO, MARIA VALERIA;Nunziato, Marcella;CANTIELLO, Piergiuseppe;IORIO, MARIANGELA;FRISSO, GIULIA;SALVATORE, FRANCESCO
2015
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
