Skip to main content

Table 2 Genetic mutations and polymorphisms associated with cholangiocarcinoma

From: Molecular Pathogenesis of Cholangiocarcinoma

Gene abbreviation Gene name Protein abbreviation Protein name Normal function(s)a
Congenital mutations/polymorphisms
 ABCB4 ATP Binding Cassette Subfamily B Member 4 MDR3 Multidrug resistance protein 3 Transport of lipids from hepatocytes to bile
 ABCB11 ATP Binding Cassette Subfamily B Member 11 BSEP Bile Salt Exporter Pump Transport of cholate conjugates from hepatocytes to bile
 ABCC2 ATP Binding Cassette Subfamily C Member 2 MRP2 Multidrug resistance-associated protein 2 Transport of endogenous and xenobiotic compounds from hepatocytes to bile
 ATP8B1 ATPase Phospholipid Transporting 8B1 FIC1 Familial Intrahepatic Cholestasis type 1 Transmembrane phospholipid transfer
 COX-2 Cyclooxygenase 2 COX-2 Cyclooxygenase 2 Inflammatory cytokine
 CYP1A2 Cytochrome P450 1A2 CYP1A2 Cytochrome P450 1A2 Xenobiotic metabolism
 GST01 Glutathione S-transferase omega-1 GST01 Glutathione S-transferase omega-1 Detoxification of endogenous and xenobiotic compounds
 KLRK1 Killer Cell Lectin Like Receptor K1 NKG2D NKG2-D type II integral membrane protein Tumour surveillance
 MTHFR Methylenetetrahydrofolate Reductase MTHFR 5,10-Methylenetetrahydrofolate reductase DNA methylation
 NAT2 N-Acetyltransferase 2 ARY2 Arylamine N-acetyltransferase 2 Drug and carcinogen metabolism
 NR1H4 Nuclear Receptor Subfamily 1 Group H Member 4 BAR (FXR) Bile acid receptor (Farnesoid X receptor) Negative feedback inhibitor of bile acid synthesis
 TYMS Thymidylate Synthetase TYMS Thymidylate synthase DNA repair
 XRCC1 X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 1 XRCC1 DNA repair protein XRCC1 DNA repair
Acquired mutations
 APC Adenomatous polyposis coli APC Adenomatous polyposis coli Tumour suppressor
 ARID1A AT-Rich Interaction Domain 1A ARID1a AT-rich interactive domain-containing protein 1A Transcription factor
 AXIN1 AXIN1 Axin-1 Axis inhibitor protein 1 Regulates apoptosis
 BAP1 BRCA1 Associated Protein 1 BAP1 Ubiquitin carboxyl-terminal hydrolase BAP1 Regulates cell growth
 BCL-2 B cell Lymphoma-2 Bcl-2 B-cell lymphoma 2 Regulates apoptosis
 BCL2L1 B Cell Lymphoma Like 1 Bcl-xL b B-cell lymphoma-extra large Inhibits apoptosis
Bcl-xS b B-cell lymphoma-extra small Promotes apoptosis
 BRAF B Rapidly Accelerated Fibrosarcoma B-Raf B-Rapidly Accelerated Fibrosarcoma Proto-oncogene
 BRCA1 Breast Cancer 1 BRCA1 Breast cancer type 1 susceptibility protein Tumour suppressor and DNA repair
 BRCA2 Breast Cancer 2 BRCA2 Breast cancer type 2 susceptibility protein DNA repair
 CCND1 Cyclin D1 CCND1 G1/S-specific cyclin-D1 Regulates cell growth
 CDH1 Cadherin 1 E-cadherin Epithelial cadherin Tumour suppressor, cell adhesion
 CDK6 Cyclin-Dependent Kinase 6 CDK6 Cyclin-Dependent Kinase 6 Controls cell cycle and differentiation
 CDKN2A Cyclin-Dependent Kinase Inhibitor 2A p16 b Protein 16 Tumour suppressor
p14arf b Protein 14 Alternate Reading Frame Tumour suppressor
 CTNNB1 Catenin Beta 1 Β-catenin Β-catenin Proto-oncogene
 EGFR (ERBB1) Epidermal Growth Factor Receptor EGFR (ErbB-1) Epidermal Growth Factor Receptor Proto-oncogene
 ERBB2 (HER2) Avian Erythroblastosis oncogene B2 ErbB-2 (HER2) Receptor tyrosine-protein kinase erbB-2 Proto-oncogene
 FBXW7 F-Box And WD Repeat Domain Containing 7 FBXW7 F-box/WD repeat-containing protein 7 Component of proteasomal protein degradation pathway
 FGF19 Fibroblast Growth Factor 19 FGF19 Fibroblast Growth Factor 19 Regulation of bile salt synthesis
 FGFR2 Fibroblast Growth Factor Receptor 2 FGFR2 Fibroblast Growth Factor Receptor 2 Cell surface receptor regulating cell proliferation, differentiation, migration and apoptosis
 IDH1 Isocitrate dehydrogenase 1 Isocitrate de-hydrogenase 1 Isocitrate dehydrogenase (cytoplasmic) Glucose metabolism, indirectly mitigates oxidative stress
 IDH2 Isocitrate dehydrogenase 2 Isocitrate de-hydrogenase 2 Isocitrate dehydrogenase (mitochondrial) Glucose metabolism, indirectly mitigates oxidative stress
 Keap1 Kelch-like ECH-associated protein 1 KEAP1 Kelch-like ECH-associated protein 1 Prevents Nrf2-driven transcription
 KRAS Kirsten Rat Sarcoma K-Ras Kirsten Rat Sarcoma Proto-oncogene
 LTO1 LTO1, ABCE1 maturation factor LTO1 Protein LTO1 homolog Ribosome biogenesis
 MCL-1 Myeloid Cell Leukaemia 1 Mcl-1 (3 isoforms) b Induced myeloid leukaemia cell differentiation protein Mcl-1 Isoform 1 resists apoptosis, isoforms 2 & 3 promote apoptosis
 MDM2 Mouse Double Minute 2 Mdm2 E3 ubiquitin-protein ligase Mdm2 Proto-oncogene, p53 inhibitor
 MYC Avian myelocytomatosis virus oncogene cellular homolog Myc Myc proto-oncogene protein Proto-oncogene
 NF1 Neurofibromin 1 NF1 Neurofibromin Stimulates Ras activity
 PBRM1 Polybromo 1 PBRM1 Protein polybromo-1 Negative regulator of cell proliferation
 PIK3CA Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha PIK3CA Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform Generates PIP3 that activates signalling cascades for cell growth, survival and motility
 PRSS1 Protease, Serine 1 TRY1 Trypsin-1 Serine protease
 PRSS2 Protease, Serine 2 TRY2 Trypsin-2 Serine protease
 PTEN Phosphatase And Tensin Homolog PTEN Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN Tumour suppressor
 RAD51AP1 RAD51 Associated Protein 1 RAD51AP1 RAD51 Associated Protein 1 DNA damage repair
 RASSF1A Ras association domain family 1 isoform A RASSF1A Ras association domain-containing protein 1 isoform A Tumour suppressor
 ROS1 Reactive Oxygen Species Proto-Oncogene 1, Receptor Tyrosine Kinase ROS1 Proto-oncogene tyrosine-protein kinase ROS Epithelial cell differentiation, activation of signal pathways of cell differentiation, proliferation, growth and survival
 SMAD4 Small Mothers Against Decapentaplegic 4 SMAD4 Small Mothers Against Decapentaplegic 4 Tumour suppressor, transcription factor
 SOCS3 Suppressor Of Cytokine Signaling 3 SOCS3 Suppressor Of Cytokine Signaling 3 Signal transduction inhibitor
 TP53 Tumour Protein 53 p53 Protein 53 Tumour suppressor
  1. aRelevant to cholangiocarcinoma development. bThrough alternate splicing