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Page 692 Alonso-Peña et al. Cancer Drug Resist 2019;2:680-709 I http://dx.doi.org/10.20517/cdr.2019.006

Table 5. Germline (G) and somatic (S) mutations affecting coding (c) and non-coding (nc) regions in target genes of
anticancer drugs in primary liver cancer
Protein Functional Clinical
Gene Protein Genetic mutation G/S Region Studies Ref.
mutation consequences consequences
BRAF BRAF c.1799A>T S c Val600Glu Moderate Decreased OS CCA patients [120]
ND Biliary Adenoma [121]
c.1910T>A S c Val637Glu Activation of Enhanced HCC in vivo [122,123]
MAPK and proliferation
AKT pathways
EGFR EGFR c.2464G>A S c Ala822Pro Moderate ND HCC patients [119]
c.67C>T S c Arg23Trp ND Benign HCC patients [119]
c.374A>G S c Tyr125Cys ND ND HCC patients dbEMT
c.2165_2173 S c Ala722_ Moderate ND TCGA-LIHC TCGA
dupCCAGCGTGG Val724dup
c.2095A>G S c Ile699Val Moderate Pathogenic TCGA-LIHC TCGA
c.3313A>T S c Thr1105Ser Moderate Neutral TCGA-LIHC TCGA
c.1097C>G S c Pro366Arg Moderate Pathogenic TCGA-LIHC TCGA
c.926_945 S c Thr309fs*17 High ND TCGA-LIHC TCGA
delCGAATATTA
AACACTTCAAA
c.3349A>T S c Ser1117Cys Moderate ND TCGA-LIHC TCGA
c.1881-2577C>T S nc Intron Modifier ND TCGA-LIHC TCGA
c.1072+33G>T S nc Intron Modifier No significant TCGA-LIHC TCGA
FLT1 VEGFR1 c.2306G>A S c Ala769Val Moderate ND HCC patients [119]
c.2196_2198delTGA S c Ser733* High ND HCC patients [119]
c.2110C>T S c Glu704Lys Moderate ND HCC patients [119]
c.1796C>G S c Thr599Arg Moderate Pathogenic TCGA-LIHC TCGA
c.2021delG S c Ser674fs*12 Modifier ND TCGA-LIHC TCGA
c.166dupG S c Glu56fs*5 High ND TCGA-CHOL TCGA
c.1988A>C S c Lys663Thr Modifier ND TCGA-LIHC TCGA
c.679A>T S c Asn227Tyr Moderate Pathogenic TCGA-LIHC TCGA
c.1997A>T S c Asn666Ile Moderate ND TCGA-LIHC TCGA
c.3636-1G>C S nc Splice acceptor High Pathogenic TCGA-LIHC TCGA
KDR VEGFR2 c.1416A>T G c Gln472His ND Increased PFS HCC patients [114]
and OS
c.713A>G S c Val238Ala ND Benign HCC patients [119]
c.2935G>A S c Glu979Lys Moderate ND TCGA-CHOL TCGA
c.1054G>T S c Ala352Ser Moderate Pathogenic TCGA-LIHC TCGA
c.1772T>G S c Leu591Arg Moderate Neutral TCGA-LIHC TCGA
c.3944A>G S c Asp1315Gly Moderate Pathogenic TCGA-LIHC TCGA
c.1297G>T S c Asp433Tyr Moderate ND TCGA-LIHC TCGA
c.3957C>A S c Tyr1319* High Pathogenic TCGA-LIHC TCGA
c.3152G>A S c Arg1051Gln Moderate Pathogenic TCGA-CHOL TCGA
c.1368C>G S c Ile456Met Moderate Pathogenic TCGA-LIHC TCGA
c.2398G>C S c Gly800Arg Moderate Pathogenic TCGA-LIHC TCGA
c.*172G>A S nc 3‘UTR Modifier ND TCGA-LIHC TCGA
VEGFA VEGFA c.-94C>G G nc 5’UTR ND Decreased HCC patients [118]
PFS and OS
c.332_346del S c Ala112_ Moderate ND TCGA-LIHC TCGA
GCCCGGGCC Gly116del
TCGGGC
c.*285A>G S nc 3‘UTR Modifier ND TCGA-CHOL TCGA
c.308+1G>C S nc Splice donor High ND TCGA-LIHC TCGA
VEGFC VEGFC c.986C>T S c Gly329Glu Moderate ND HCC patients [119]
c.367C>A S c Asp123Tyr Moderate ND HCC patients [119]
c.235T>C S c Lys79Glu Moderate ND HCC patients [119]
c.842G>A S c Gly281Glu Moderate ND TCGA-LIHC TCGA
c.938A>G S c Asn313Ser Moderate ND TCGA-LIHC TCGA
c.341A>T S c Tyr114Phe Moderate ND TCGA-LIHC TCGA
c.1037C>G S c Thr346Ser Moderate ND TCGA-LIHC TCGA
c.1253T>G S c Met418Arg Moderate ND TCGA-LIHC TCGA
c.820G>C S c Asp274His Moderate ND TCGA-CHOL TCGA