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.
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: The experience at Gemelli hospital and a literature review / Minucci, A.; Scambia, G.; Santonocito, C.; Concolino, P.; Canu, G.; Mignone, F.; Saggese, I.; Guarino, D.; Costella, A.; Molinario, R.; De Bonis, M.; Ferrandina, G.; Petrillo, M.; Scaglione, G. L.; Capoluongo, E.. - In: EXPERT REVIEW OF MOLECULAR DIAGNOSTICS. - ISSN 1473-7159. - 15:10(2015), pp. 1383-1403. [10.1586/14737159.2015.1081059]
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: The experience at Gemelli hospital and a literature review
Petrillo M.;
2015-01-01
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
