%0 Journal Article
%T Diagnostic Targeted Sequencing Panel for Hepatocellular Carcinoma Genomic Screening
%A Andrea Garofoli
%A Charlotte K.Y. Ng
%A Luca Quagliata
%A Luigi M. Terracciano
%A Manuela Lanzafame
%A Markus H. Heim
%A Matthias S. Matter
%A Nadia Tosti
%A Salvatore Piscuoglio
%A Stefan Wieland
%A Valeria Perrina
%A Viola Paradiso
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.07.003
%X 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 of HCC. We designed an AmpliSeq custom panel targeting all exons
of 33 protein-coding and two long noncoding RNA genes frequently mutated in HCC, TERT
promoter, and nine genes with frequent copy number alterations. By using this panel,
the profiling of DNA from fresh-frozen (n£¿=£¿10, 1495¡Á) and/or formalin-fixed, paraffin-embedded
(FFPE) tumors with low-input DNA (n£¿=£¿36, 530¡Á) from 39 HCCs identified at least one
somatic mutation in 90% of the cases.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30025-4/fulltext