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EnglishObjective: 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.
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| Titolo: | Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: The experience at Gemelli hospital and a literature review |
| Autori: | |
| Data di pubblicazione: | 2015 |
| Rivista: | |
| Handle: | http://hdl.handle.net/11388/245552 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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http://hdl.handle.net/11388/245552
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