TY - JOUR
T1 - Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review
AU - Minucci, Angelo
AU - Scambia, Giovanni
AU - Santonocito, Concetta
AU - Concolino, Paola
AU - Canu, Giulia
AU - Mignone, Flavio
AU - Saggese, Igor
AU - Guarino, Donatella
AU - Costella, Alessandra
AU - Molinario, Rossana
AU - De Bonis, Maria
AU - Ferrandina, Maria Gabriella
AU - Petrillo, Marco
AU - Scaglione, Giovanni Luca
AU - Capoluongo, Ettore Domenico
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - BRCA
KW - ovarian cancer
KW - BRCA
KW - ovarian cancer
UR - http://hdl.handle.net/10807/70097
U2 - 10.1586/14737159.2015.1081059
DO - 10.1586/14737159.2015.1081059
M3 - Article
SN - 1473-7159
VL - 15
SP - 1383
EP - 1403
JO - Expert Review of Molecular Diagnostics
JF - Expert Review of Molecular Diagnostics
ER -
