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Page 686 Alonso-Peña et al. Cancer Drug Resist 2019;2:680-709 I http://dx.doi.org/10.20517/cdr.2019.006

Table 2. Germline (G) and somatic (S) mutations affecting coding (c) and non-coding (nc) regions of ABC genes in primary
liver cancer
Functional Clinical
Gene Protein Genetic mutations G/S Region Protein mutations Studies References
consequences consequences
ABCB1 MDR1 c.1537A>T S c Ile513Phe Moderate ND TCGA-LIHC TCGA
c.2621T>C S c Val874Ala Moderate ND TCGA-LIHC TCGA
c.20G>A S c Arg7His Moderate ND TCGA-LIHC TCGA
c.246delA S c Gly83Efs*3 High ND TCGA-LIHC TCGA
c.466A>T S c Met156Leu Moderate ND TCGA-LIHC TCGA
c.1827A>T S c Lys609Asn Moderate ND TCGA-LIHC TCGA
c.28887T>G S c Leu963Trp Moderate ND TCGA-LIHC TCGA
c.590T>A S c Met197Lys Moderate ND TCGA-LIHC TCGA
c.3435C>T S c Ile1145= ND Higher risk of HCC [50]
HCC recurrence patients
ABCC1 MRP1 c.2512A>G S c Ile838Val Moderate ND TCGA-LIHC TCGA
c.854C>A S c Pro285Gln Moderate ND TCGA-LIHC TCGA
c.2296G>A S c Val766Met Moderate ND TCGA- TCGA
CHOL
c.2281A>T S c Ile761Phe Moderate ND TCGA-LIHC TCGA
Moderate
c.2195T>A S c Leu732Gln Moderate ND TCGA-LIHC TCGA
c.-1666G>A S nc Promoter ND Lower expression HCC [57]
patients
c.-260G>C S nc Promoter ND Higher expression HepG2 and [58]
Hep3B cells
ABCC2 MRP2 c.3737T>A S c Leu1246His Moderate ND TCGA-LIHC TCGA
c.71C>A S c Pro24Gln Moderate ND TCGA- TCGA
CHOL
c.1781G>A S c Ser594Asn Moderate ND TCGA-LIHC TCGA
c.2810A>G S c Asn937Ser Moderate ND TCGA-LIHC TCGA
c.715G>T S c Val239Leu Moderate ND TCGA-LIHC TCGA
c.1249G>A S c Val471Ile ND Sorafenib efflux HEK cells [59]
c.3972C>T S c Ile1324= ND Lower expression Patients [60]
with CCA
c.-58A>C S nc 5‘ UTR Modifier ND TCGA-LIHC TCGA
c.-24C>T S nc 5’ UTR ND Higher expression Luciferase [61]
assay
ABCC3 MRP3 c.1666_1671dupTACGTG S c Tyr556_Val557 Moderate ND TCGA-LIHC TCGA
c.614A>C S c Asn205Thr Moderate ND TCGA-LIHC TCGA
c.423G>T S c Trp141Cys Moderate ND TCGA-LIHC TCGA
c.422G>T S c Trp141Leu Moderate ND TCGA-LIHC TCGA
c.800C>A S c Thr267Lys Moderate ND TCGA-LIHC TCGA
c.1558G>A S c Gly520Ser Moderate ND TCGA-LIHC TCGA
c.2120A>G S c Glu707Gly Moderate ND TCGA-LIHC TCGA
c.1936A>C S c Ser646Arg Moderate ND TCGA-LIHC TCGA
c.-211C>T S nc 5’ UTR ND Lower expression Healthy [62]
Same expression liver [63]
c.*179-9_*179-7delTCC S nc Intron Modifier ND TCGA-LIHC TCGA
ABCC4 MRP4 c.1024C>A S c Leu342Ile Moderate ND TCGA-LIHC TCGA
c.994G>A S c Val332Met Moderate ND TCGA-LIHC TCGA
c.382T>G S c Ser128Ala Moderate ND TCGA-LIHC TCGA
c.2174A>T S c Gln725Leu Moderate ND TCGA-LIHC TCGA
c.1037T>A S c Ile346Asn Moderate ND TCGA-LIHC TCGA
c.1785G>C S c Gln595His Moderate ND TCGA-LIHC TCGA
ABCC5 MRP5 c.1745A>T S c Asp582Val Moderate ND TCGA-LIHC TCGA
c.3724C>T S c Arg1242Cys Moderate ND TCGA-LIHC TCGA
c.4145T>C S c Leu1382Phe Moderate ND TCGA-LIHC TCGA
ABCG2 BCRP c.34G>A G c Val12Met ND Altered sorafenib HCC [43]
pharmacokinetics patients
g.89078924T>C G c Intron ND Altered sorafenib HCC [43]
pharmacokinetics patients