Detection of BRCA 1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview on the current methods.

Detection of BRCA 1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview on the current methods. Expert Rev Mol Diagn. 2019 Aug 20;: Authors: Concolino P, Capoluongo E Abstract Introduction: Currently, genetic testing of BRCA1/2 genes includes screening for single nucleotide variants, small insertions/deletions and for copy number variations (CNVs). In fact, many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 may account for up to one-third of all disease-causing alterations in various populations, while LGRs in BRCA2 are less frequently observed. Areas covered: We aimed to present an overview on current technologies employed in molecular diagnosis of BRCA1/2 LGRs. The most relevant literature papers, showing the application of new strategies, were considered. Expert opinion: Currently, the progress of next generation sequencing (NGS) technologies allows for the validation of new pipelines able to provide rapid and effective results, ensuring the sensitivity and specificity requested for the detection of BRCA1/2 LGRs. Multiplex ligation-dependent probe amplification (MLPA) remains the gold standard to confirm NGS CNVs results and to perform fast screening in families where a pathogenic rearrangement has been detected in a proband. PMID: 31429350 [PubMed - as supplied by publisher]
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research