A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

Clin Chim Acta. 2018 May:480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

¹ Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy. Electronic address: [email protected].
² Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
³ Department of Science and Innovation Technology (DISIT), University of Piemonte Orientale, Alessandria, Italy.
⁴ Institute of Legal Medicine, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.
⁵ Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy; Laboratory of Advanced Molecular Diagnostics (DIMA), Istituto Dermopatico dell'Immacolata, Fondazione Luigi Maria Monti, IRCCS, Rome, Italy.

No abstract available

Keywords: BRCA1/2; Breast cancer; Large genomic rearrangements; Mutations detection; Next generation sequencing.

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