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©The Author(s) 2021.
World J Gastrointest Pathophysiol. Sep 22, 2021; 12(5): 84-105
Published online Sep 22, 2021. doi: 10.4291/wjgp.v12.i5.84
Published online Sep 22, 2021. doi: 10.4291/wjgp.v12.i5.84
Table 2 Genetic mutations and polymorphisms associated with cholangiocarcinoma
| Gene (Full name) | Protein (Full name) | Normal function(s) | Ref. |
| ATP8B1 (ATPase Phospholipid Transporting 8B1) | FIC1 (Familial Intrahepatic Cholestasis type 1) | Transmembrane phospholipid transfer | Wadsworth et al[88], 2011 |
| ABCB11 (ATP Binding Cassette Subfamily B Member 11) | BSEP (Bile Salt Exporter Pump) | Transport of cholate conjugates from hepatocytes to bile | Wadsworth et al[88], 2011 |
| ABCC2 (ATP Binding Cassette Subfamily C Member 2) | MRP2 (Multidrug resistance-associated protein 2) | Transport of endogenous and xenobiotic compounds from hepatocytes to bile | Hoblinger et al[89], 2009 |
| ABCB4 (ATP Binding Cassette Subfamily B Member 4) | MDR3 (MHC class I polypeptide-related sequence A) | Transport of lipids from hepatocytes to bile | Khabou et al[90], 2019 |
| COX-2 (Cyclooxygenase 2) | COX-2 (Cyclooxygenase 2) | Inflammatory cytokine | Kim et al[91], 2002 |
| CYP1A2 (Cytochrome P450 1A2) | CYP1A2 (Cytochrome P450 1A2) | Xenobiotic metabolism | Prawan et al[92], 2005 |
| KLRK1 (Killer Cell Lectin Like Receptor K1) | NKG2D (NKG2-D type II integral membrane protein) | Tumor surveillance | Melum et al[93], 2008 |
| MTHFR (Methylenetetrahydrofolate Reductase) | MTHFR (5,10-Methylenetetrahydrofolate reductase) | DNA methylation | Ko et al[94], 2006 |
| NAT2 (N-Acetyltransferase 2) | ARY2(Arylamine N-acetyltransferase 2) | Drug and carcinogen metabolism | Prawan et al[92], 2005 |
| PTGS2 (Prostaglandin-endoperoxide synthase 2) | PTGS2 (Prostaglandin G/H synthase 2) | The key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase | Sakoda et al[95], 2006 |
| XRCC1 (X-ray repair cross complementing 1) | XRCC1 (DNA repair protein XRCC1) | Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes | Huang et al[96], 2008 |
| GSTO1(Glutathione S-transferase omega-1) | GST01 (Glutathione S-transferase omega-1) | Detoxification of endogenous and xenobiotic compounds | Marahatta et al[97], 2006 |
| MICA (MICA PERB11.1) | MICA (MHC class I polypeptide-related sequence A) | Stress-induced self-antigen and Ligand for the KLRK1/NKG2D receptor | Melum et al[93], 2008 |
| NR1H4(Nuclear Receptor Subfamily 1 Group H Member 4) | BAR (FXR) (Bile acid receptor (Farnesoid X receptor) | Negative feedback inhibitor of bile acid synthesis | Wadsworth et al[88], 2011 |
| TYMS (Thymidylate Synthetase) | TYMS (Thymidylate synthase) | DNA repair | Razumilava et al[61], 2014 |
| XRCC1 (X-Ray Repair Complementing Defective Repair in Chinese Hamster Cells 1) | XRCC1 (DNA repair protein XRCC1) | DNA repair | Gong et al[98], 2015 |
| APC (Adenomatous polyposis coli) | APC (Adenomatous polyposis coli) | Tumor suppressor | Kang et al[99], 1999 |
| ARID1A (AT-Rich Interaction Domain 1A) | ARID1a (AT-rich interactive domain-containing protein 1A) | Transcription factor | Razumilava et al[61], 2014 |
| BAP1 (BRCA1 Associated Protein 1) | BAP1 (Ubiquitin carboxyl-terminal hydrolase BAP1) | Regulates cell growth | Yoshino et al[100], 2020 |
| BCL-2 (B cell Lymphoma-2) | Bcl-2 (B-cell lymphoma 2) | Regulates apoptosis | Fingas et al[101], 2010 |
| BRAF (B Rapidly Accelerated Fibrosarcoma) | B-Raf (B-Rapidly Accelerated Fibrosarcoma) | Proto-oncogene | Sia et al[24], 2013 |
| BRCA1 (Breast Cancer 1) | BRCA1 (Breast cancer type 1 susceptibility protein) | Tumor suppressor and DNA repair | Paradiso et al[102], 2020 |
| 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 | Yoshino et al[100], 2020 |
| CDH1(Cadherin 1) | E-cadherin (Epithelial cadherin) | Tumor suppressor, cell adhesion | Ross et al[103], 2014 |
| CDK6 (Cyclin-Dependent Kinase 6) | CDK6 (Cyclin-Dependent Kinase 6) | Controls cell cycle and differentiation | |
| CTNNB1 (Catenin Beta 1) | Β-catenin | Proto-oncogene | O'Dell et al[104], 2012 |
| 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 | Ross et al[103], 2014 |
| 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 | Nabeshima et al[105], 2020 |
| 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 | Ma et al[106], 2020 |
| KRAS (Kirsten Rat Sarcoma) | K-Ras (Kirsten Rat Sarcoma) | Proto-oncogene | Tannapfel et al[107], 2000 |
| MDM2 (Mouse Double Minute 2) | Mdm2 (E3 ubiquitin-protein ligase Mdm2) | Proto-oncogene, p53 inhibitor | Ross et al[103], 2014 |
| MYC (Avian myelocytomatosis virus oncogene cellular homolog) | Myc (Myc proto-oncogene protein) | Proto-oncogene | Zhou et al[108], 2019 |
| NF1 (Neurofibromin 1) | NF1 (Neurofibromin) | Stimulates Ras activity | Ross et al[103], 2014 |
| PBRM1 (Polybromo 1) | PBRM1 (Protein polybromo-1) | Negative regulator of cell proliferation | Luchini et al[109], 2017 |
| 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 | Xu et al[110], 2011 |
| PTEN (Phosphatase and Tensin Homolog) | PTEN (Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN) | Tumor suppressor | Zhu et al[111], 2014 |
| RAD51AP1 (RAD51 Associated Protein 1) | RAD51AP1 (RAD51 Associated Protein 1) | DNA damage repair | Liu et al[112], 2021 |
| RASSF1A (Ras association domain family 1 isoform A) | RASSF1A (Ras association domain-containing protein 1 isoform A) | Tumor suppressor | Chen et al[113], 2005 |
| SMAD4 (Small Mothers Against Decapentaplegic 4) | SMAD4 (Small Mothers Against Decapentaplegic 4) | Tumor suppressor, transcription factor | Yoshino et al[100], 2020 |
| SOCS3 (Suppressor of Cytokine Signaling 3) | SOCS3 (Suppressor of Cytokine Signaling 3) | Signal transduction inhibitor | Andersen et al[114], 2012 |
| TP53 (Tumor Protein 53) | p53 (Protein 53) | Tumor suppressor | O'Dell et al[104], 2012 |
- Citation: Safarpour AR, Askari H, Ejtehadi F, Azarnezhad A, Raeis-Abdollahi E, Tajbakhsh A, Abazari MF, Tarkesh F, Shamsaeefar A, Niknam R, Sivandzadeh GR, Lankarani KB, Ejtehadi F. Cholangiocarcinoma and liver transplantation: What we know so far? World J Gastrointest Pathophysiol 2021; 12(5): 84-105
- URL: https://www.wjgnet.com/2150-5330/full/v12/i5/84.htm
- DOI: https://dx.doi.org/10.4291/wjgp.v12.i5.84