Objective: Massive parallel sequencing (MPS) is the new frontier for molecular diagnostics. Twenty-four papers regarding BRCA analysis were considered for reviewing all pipelines evaluated in this field.
Methods: Proposed here is an integrated MPS workflow able to successfully identify BRCA1/2 mutational status on 212 Italian ovarian cancer patients. The review of literature data is reported.
Result: The pipeline can be routinely used as robust molecular diagnostic strategy, being highly sensitive and specific.
Conclusion: Literature data report that efforts are being made in order to fully translate MPS-based BRCA1/2 gene assay into routine clinical diagnostics. However, this study highlights the need of an integrated MPS BRCA1/2 molecular workflow fulfilling the standardized requirements needed in the routine clinical laboratory practice.
Keywords: BRCA1/2 genes; bioinformatics NGS analysis; hereditary breast and ovarian cancer syndrome; massive parallel sequencing; next-generation sequencing.