Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review

A Minucci, Giovanni Scambia, Concetta Santonocito, P Concolino, G Canu, F Mignone, I Saggese, D Guarino, A Costella, R Molinario, M De Bonis, Maria Gabriella Ferrandina, M Petrillo, Gl Scaglione, Ettore Domenico Capoluongo*

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo

26 Citazioni (Scopus)

Abstract

OBJECTIVE:\r\n\r\nMassive 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.\r\nMETHODS:\r\n\r\nProposed 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.\r\nRESULT:\r\n\r\nThe pipeline can be routinely used as robust molecular diagnostic strategy, being highly sensitive and specific.\r\nCONCLUSION:\r\n\r\nLiterature 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.
Lingua originaleInglese
pagine (da-a)1383-1403
Numero di pagine21
RivistaExpert Review of Molecular Diagnostics
Volume15
Numero di pubblicazione10
DOI
Stato di pubblicazionePubblicato - 2015

All Science Journal Classification (ASJC) codes

  • Anatomia Patologica e Medicina Forense
  • Medicina Molecolare
  • Biologia Molecolare
  • Genetica

Keywords

  • BRCA
  • ovarian cancer

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