Figure 1

A novel nonsense mutation in MSH2.
(a) WES identified a nonsense mutation, which was confirmed by Sanger sequencing (b). The nonsense mutation was not identified by RNA-Seq (c), but was confirmed by Sanger sequencing (d) and droplet digital PCR (e). The arrow indicates the nonsense mutation. (f) Mass spectrometry (MS) identified MSH2 peptides in the liver cirrhotic tissue and not in the cancer tissue. The inserted table illustrated the MSH2 peptides identified in the cirrhotic tissue by two independent MS experiments. (g) Western plot showing a down-regulated expression of MSH2 in the liver cancer tissue, compared with the cirrhotic tissue. R1, replicate #1; R2, replicate #2; FAM: 5-carboxyfluorescein; and VIC: registered name. PBL, peripheral blood lymphocyte.