The ubiquitin-proteasome system (UPS) is the essential system within the body to ensure elimination of misfolded proteins.1 Proteins which are to be degraded are tagged with polyubiquitin chains, which are recognized by 19S.1 This particle, 19S, along with the 20S proteasome core, form the 26S proteasome…
Mutation Types
ALK is a tyrosine kinase receptor that resides on chromosome 2p23. Chromosomal rearrangements resulting in fusion genes leads to ALK tyrosine kinase that promote cell survival by activating a signaling pathway or by inhibition of apoptosis, which leads to cell proliferation.1
Tumor cells have many characteristics, including genomic instability and oncogene activation, which should lead to apoptosis.1 In a bid to survive, tumor cells may become dependent on the BCL-2 protein.2 Certain cancer cells will overexpress BCL-2, which in turn impedes apoptosis and facilitates tumor growth…
BCMA is a member of the tumor necrosis factor receptor family that is expressed on plasma cells and on late stage normal and malignant B-cells.1 BCMA binds to BAFF, activating the NF-kB and MAPK8/JNK signaling pathways, which leads to the proliferation and survival of plasma cells.2…
Oncogenic mutations in BRAF genes activate the RAF/MEK/ERK pathway, resulting in increased cell proliferation and resistance to apoptosis.1 BRAF mutations have been identified in 7% to 8% of all cancers.2 V600E is the most common activating mutations in BRAF and is associated with more aggressive cancer and…
Bruton's tyrosine kinase (BTK), a non-receptor tyrosine kinase, plays an important role in B-cell receptor activation.1 BCR activation results in translocation and phosphorylation of BTK. When BTK is inducted it activates phospholipase C and calcium mobilization, which results in downstream events, including proliferation…
CD19 antigen is a type I transmembrane glycoprotein that is expressed in normal and malignant B cells.1 It plays a role in B cell development and maturation by modulating B-cell receptor signaling during lymphopoiesis.2,3 CD19 deficiency leads to an impaired humoral response, resulting in increased…
Carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5) is a cell surface glycoprotein that is a member of the carcinoembryonic antigen family, which contains 12 glycoproteins. It is used as a clinical biomarker for many different cancers. It may promote tumor development, metastasis, and cell adhesion by inhibiting…
The growth-factor-receptor tyrosine kinase family includes EGFR (ErbB1, HER1), ErbB2 (HER2, neu in rodents), ErbB3 (HER3), and ErbB4 (HER4).1 Receptor overexpression and ligand-dependent and ligand-independent mechanisms can cause abnormal EGFR activation.
When EGFR is…
By modulating critical gene expression, EZH2 promotes cell cycle progression, cell proliferation, differentiation, and apoptosis.1
EZH2 is overexpressed in several malignant tumors and recurrently mutated in other cancers.2 It provides a critical role in…
Fibroblast growth factor receptors (FGFR) are a gene family of receptor tyrosine kinases that are differentially expressed in a tissue-specific manner throughout development and into adulthood. The signaling members identified in vertebrates are the homologs FGFR1, FGFR2, FGFR3, and FGFR4.1 They are involved in biological…
G protein-coupled receptor class C group 5 member D (GPRC5D) is a gene expressed in the hair follicle and malignant bone marrow plasma cells.1 G protein-coupled receptor proteins are cell surface receptors located in the plasma membrane. Activation of the protein occurs when it binds to an external signaling molecule,…
Human epidermal growth factor receptor 2 (HER2) is 1 of 4 transmembrane tyrosine kinase receptor proteins in the epidermal growth factor receptor family.1,2 Normally expressed on epithelial cellular membranes of organs such as breast and skin, HER2 exists in other tissues, including gastrointestinal, respiratory,…
Homologous recombination repair (HHR) is a DNA repair mechanism that removes damaged DNA by acting on double-strand breaks, interstrand crosslinks, and other kinds of DNA damage.1 DNA damage is repaired with high fidelity by correcting damage with information copied from a homologous undamaged molecule.2 Defects in HRR are…
NRG1 stands for Neuregulin 1, a gene that encodes ligands for ERBB family receptors, particularly ERBB3 and ERBB4. These receptors are part of the EGFR (epidermal growth factor receptor) signaling pathway, which is crucial for cell growth, survival, and differentiation.When fused with other genes, NRG1 can become aberrantly expressed…
PIK3CA (phosphatidylinositol 3-kinase catalytic subunit) is an oncogene that encodes one piece (a subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3-Kinase).1 PIK3CA plays a role in the control of cell growth, cell survival, and cell migration. Mutations in the PIK3CA gene can lead to uncontrolled cell growth and…
