Diagnostic targeted sequencing panel for hepatocellular carcinoma genomic screening

Commercially available targeted panels miss genomic regions frequently altered in hepatocellular carcinoma (HCC). We sought to design and benchmark a sequencing assay for genomic screening in HCC. We designed an AmpliSeq custom panel targeting all exons of 33 protein-coding and two long non-coding RNA genes frequently mutated in HCC, TERT promoter, and nine genes with frequent copy number alterations. Using this panel, the profiling of DNA from fresh-frozen (n=10, 1495x) and/or formalin-fixed, paraffin-embedded (FFPE) tumors with low-input DNA (n=36, 530x) from 39 HCCs identified at least one somatic mutation in 90% of the cases.

Source: Journal of Molecular Diagnostics - August 22, 2018 Category: Pathology Authors: Viola Paradiso, Andrea Garofoli, Nadia Tosti, Manuela Lanzafame, Valeria Perrina, Luca Quagliata, Matthias S. Matter, Stefan Wieland, Markus H. Heim, Salvatore Piscuoglio, Charlotte K.Y. Ng, Luigi M. Terracciano Tags: Regular Article Source Type: research