Skip to main content
. 2019 Sep 19;2(3):680–709. doi: 10.20517/cdr.2019.006

Table 4.

Germline (G) and somatic (S) mutations affecting coding (c) and non-coding (nc) regions in genes coding phase II enzymes in primary liver cancer

Gene Protein Genetic mutations G/S Region Protein mutations Functional consequences Clinical consecuences Studies References
DCK DCK c.*823C>T S   nc 3’ UTR     Modifier ND TCGA-LIHC      TCGA
c.*157G>T S   nc 3’ UTR     Modifier ND TCGA-LIHC      TCGA
CDA CDA c.208G>A G c Ala70Thr     High Neutropenia and decreased clearance of gemcitabine Several types of cancer      [87]
c.271A>G S c Met91Val     Moderate Neutral TCGA-LIHC      TCGA
c.267-1G>A S c Splice acceptor     High Pathogenic TCGA-LIHC      TCGA
c.157T>C S c Cys53Arg     Moderate ND TCGA-LIHC      TCGA
MET MET c.65G>T S c Ser22Ile     Moderate ND TCGA-LIHC      TCGA
c.3713A>T S c His1238Leu     Moderate ND TCGA-LIHC      TCGA
c.3767A>T S c His1256Leu     Moderate ND TCGA-LIHC      TCGA
SULT1A1 SULT1A1 c.-265_-258delGTGAGGGG S   nc 5’ UTR     Modifier ND TCGA-CHOL      TCGA
c.-4-460_-4-453delGTGAGGGG S   nc Intron     Modifier ND TCGA-CHOL      TCGA
UGT2B7 UGT2B7 c.311C>A S c Thr104Lys     Moderate Neutral TCGA-LIHC      TCGA
c.22G>T S c Val8Leu     Moderate ND TCGA-LIHC      TCGA
c.282_283delTA S c Lys95Glufs*26     High ND TCGA-LIHC      TCGA
c.589_591delGTT S c Val197del     Moderate ND TCGA-LIHC      TCGA
UGT1A1 UGT1A1 c.725T>A S c Val242Glu     Moderate ND TCGA-LIHC      TCGA
UGT1A3 UGT1A3 c.779A>G S c Asp260Gly     Moderate ND TCGA-LIHC      TCGA
c.457C>T S c Pro153Ser     Modifier ND TCGA-LIHC      TCGA
c.867+13031C>T S c Intron     Modifier ND TCGA-LIHC      TCGA
c.867+17971A>G S c Intron     Moderate ND TCGA-LIHC      TCGA
UGT1A9 UGT1A9 c.668T>A S c Phe223Tyr     Moderate Neutral TCGA-LIHC      TCGA

Data obtained from TCGA database (https://cancergenome.nih.gov/) and referred literature. Functional consequences are based on VEP (Variant Effect Predictor; https://www.ensembl.org/vep) impact: High means that the variant is supposed to cause a high disruptive impact in the protein, which is likely to cause loss of function; Moderate means that the variant may be not disruptive, but results in a decrease effectiveness of the encoded protein; Modifier is usually referred to non-coding variants, whose impact is difficult to determine, although they can be involved in transcription or splicing changes. ND: not described; TCGA: the cancer genome atlas; TCGA-LIHC: the cancer genome atlas - liver hepatocellular carcinoma; TCGA-CHOL: the cancer genome atlas - cholangiocarcinoma