Massively-parallel sequencing in routine diagnostics for hereditary BRCA1/2 mutations

作者：Auber B^*; Heinecke K; Morlot S; Schlegelberger B; Steinemann D

来源：Medizinische Genetik, 2014, 26(2): 255-263.

DOI：10.1007/s11825-014-0443-y

• High-throughput nucleotide sequencing
• Hereditary breast and ovarian cancer syndrome
• BRCA1
• BRCA2
• Molecular diagnostics

During the past few years, application of massively-parallel sequencing (MPS) in molecular diagnostics of hereditary cancer has increased significantly. The potential advantages of MPS, compared for example to Sanger sequencing-based methods, are higher sample capacities, shorter turnaround times, and decreased costs. Adoption in routine diagnostics is simplified due to the availability of certified kits for sample preparation. Here, the validation of two MPS systems for routine BRCA1/2 sequencing diagnostics are describe. Users should keep in mind the technical advantages and disadvantages of the individual sequencing machines. The results achieved with MPS are equal to those from Sanger sequencing.

• 出版日期2014-6