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KIT, D816V (c.2447A>T)

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Expand Collapse KIT  - General Description KIT is a gene that provides the code for making a protein belonging to the family of receptor tyrosine kinases (RTKs) that are located on the cell surface. RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as how cells grow and divide (proliferate), become able to perform specific tasks (differentiate) or move (migrate). The KIT protein is activated when another protein, called stem cell factor, attaches (binds) to it. The activated KIT protein then activates other proteins inside the cell, leading to activation of a series of signaling pathways. Mutations in KIT are the most common genetic change associated with gastrointestinal stromal tumors (GISTs). GISTs are found in the gastrointestinal (GI) tract, usually in the stomach or small intestine. In most cases, these mutations are said to be somatic because, instead of coming from a parent and being present in every cell (hereditary), they are acquired during the course of a person's life and are found only in cells that become cancerous. The mutations create a protein that no longer needs binding of the stem cell factor protein to become activated. Therefore, the signaling systems are always turned on. The constant signaling increases proliferation of a certain type of cell (interstitial cells of Cajal [ICCs]), leading to GIST formation. KIT mutations also are involved in some cases of acute myeloid leukemia (AML), sinonasal natural killer T-cell lymphoma (NKTCL), some types of melanoma and a type of testicular cancer (seminoma). Source: Genetics Home ReferenceThe KIT gene (also known as CD117) encodes for a transmembrane receptor that binds the ligand known as stem cell factor. Binding of the ligand leads to KIT heterodimerization and then autophosphorylation through activation of its intrinsic receptor tyrosine kinase activity. These phosphorylation sites serve as docking areas for the assembly of signal transduction complexes that facilitate MAP kinase, PI3K/AKT/mTOR and JAK/STAT pathway activation to promote cellular proliferation and survival. The highest frequency of KIT mutations are found in gastrointestinal stromal tumors (85%) and core binding factor acute myeloid leukemias (46%). Source: Genetics Home Reference
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KIT is a gene that provides the code for making a protein belonging to the family of receptor tyrosine kinases (RTKs) that are located on the cell surface. RTKs are the first link in a chain that sends signals from the outside of a cell to the parts inside the cell that control different cellular processes, such as how cells grow and divide (proliferate), become able to perform specific tasks (differentiate) or move (migrate). The KIT protein is activated when another protein, called stem cell factor, attaches (binds) to it. The activated KIT protein then activates other proteins inside the cell, leading to activation of a series of signaling pathways.

Mutations in KIT are the most common genetic change associated with gastrointestinal stromal tumors (GISTs). GISTs are found in the gastrointestinal (GI) tract, usually in the stomach or small intestine. In most cases, these mutations are said to be somatic because, instead of coming from a parent and being present in every cell (hereditary), they are acquired during the course of a person's life and are found only in cells that become cancerous. The mutations create a protein that no longer needs binding of the stem cell factor protein to become activated. Therefore, the signaling systems are always turned on. The constant signaling increases proliferation of a certain type of cell (interstitial cells of Cajal [ICCs]), leading to GIST formation.

KIT mutations also are involved in some cases of acute myeloid leukemia (AML), sinonasal natural killer T-cell lymphoma (NKTCL), some types of melanoma and a type of testicular cancer (seminoma).

Source: Genetics Home Reference
The KIT gene (also known as CD117) encodes for a transmembrane receptor that binds the ligand known as stem cell factor. Binding of the ligand leads to KIT heterodimerization and then autophosphorylation through activation of its intrinsic receptor tyrosine kinase activity. These phosphorylation sites serve as docking areas for the assembly of signal transduction complexes that facilitate MAP kinase, PI3K/AKT/mTOR and JAK/STAT pathway activation to promote cellular proliferation and survival. The highest frequency of KIT mutations are found in gastrointestinal stromal tumors (85%) and core binding factor acute myeloid leukemias (46%).

Source: Genetics Home Reference
PubMed ID's
9438854, 15339674, 15948115, 16647948, 17372901, 16908931
Expand Collapse D816V (c.2447A>T)  in KIT
The KIT D816V mutation arises from a single nucleotide change (c.2447A>T) and results in an amino acid substitution of the aspartic acid (D) at position 816 by a valine (V).
The KIT D816V mutation arises from a single nucleotide change (c.2447A>T) and results in an amino acid substitution of the aspartic acid (D) at position 816 by a valine (V).

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Your Matched Clinical Trials

Trial Matches: (G) - Gene, (M) - Mutation
Trial Status: Showing all 1 result Per Page:
Protocol # Title Location Status Match
NCT02642016 A Study to Evaluate the Safety and Pharmacokinetics of KTN0158 in Adult Patients With Advanced Solid Tumors A Study to Evaluate the Safety and Pharmacokinetics of KTN0158 in Adult Patients With Advanced Solid Tumors MGH Open G
MGH has many open clinical trials for other cancers not shown on the Targeted Cancer Care website. They can be found on the MassGeneral.org clinical trials search page.

Additional clinical trials may be applicable to your search criteria, but they may not be available at MGH. These clinical trials can typically be found by searching the clinicaltrials.gov website.
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